Journal articles: 'Neurogenetic syndrome'

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Harrop, Clare, Aaron R. Dallman, Luc Lecavalier, James W. Bodfish, and Brian A. Boyd. "Behavioral Inflexibility Across Two Neurogenetic Conditions: Down Syndrome and Fragile X Syndrome." American Journal on Intellectual and Developmental Disabilities 126, no. 5 (August 24, 2021): 409–20. http://dx.doi.org/10.1352/1944-7558-126.5.409.

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Abstract Behavioral inflexibility (BI) has been highlighted to occur across genetic and neurodevelopmental disorders. This study characterized BI in two common neurogenetic conditions: Fragile X syndrome (FXS) and Down syndrome (DS). Caregivers of children with FXS (N = 56; with ASD = 28; FXS only = 28) and DS (N = 146) completed the Behavioral Inflexibility Scale (BIS) via an online survey. Total BIS scores were higher in FXS+ASD than both FXS only and DS (p <.001). Most endorsed items were similar across the three groups, but scores were higher in the FXS+ASD group. In all groups, BI associated with other clinical variables (receptive behaviors, anxiety, social communication). The current data suggest that BI is variable across neurogenetic conditions and higher in individuals with comorbid ASD.

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Duis, Jessica. "The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome." American Journal on Intellectual and Developmental Disabilities 127, no. 2 (February 18, 2022): 95–98. http://dx.doi.org/10.1352/1944-7558-127.2.95.

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Abstract Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.

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Coppus, Antonia M. W. "Neurogenetic Syndrome: Behavioral Issues and Their Treatment." Journal of Policy and Practice in Intellectual Disabilities 8, no. 2 (June 2011): 139–40. http://dx.doi.org/10.1111/j.1741-1130.2011.00299.x.

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Buiting, Karin, Charles Williams, and Bernhard Horsthemke. "Angelman syndrome — insights into a rare neurogenetic disorder." Nature Reviews Neurology 12, no. 10 (September 12, 2016): 584–93. http://dx.doi.org/10.1038/nrneurol.2016.133.

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Walter, E., P. K. Mazaika, and A. L. Reiss. "Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome." Neuroscience 164, no. 1 (November 2009): 257–71. http://dx.doi.org/10.1016/j.neuroscience.2009.04.033.

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Fussiger, Helena, José Luiz Pedroso, and Jonas Alex Morales Saute. "Diagnostic reasoning in neurogenetics: a general approach." Arquivos de Neuro-Psiquiatria 80, no. 09 (September 2022): 944–52. http://dx.doi.org/10.1055/s-0042-1755275.

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AbstractEstablishing the definitive diagnosis of a neurogenetic disease is usually a complex task. However, like any type of clinical diagnostic reasoning, an organized process of development and consideration of diagnostic hypotheses may guide neurologists and medical geneticists to solve this difficult task. The aim of the present review is to propose a general method for diagnostic reasoning in neurogenetics, with the definition of the main neurological syndrome and its associated topographical diagnosis, followed by the identification of major and secondary neurological syndromes, extraneurological findings, and inheritance pattern. We also discuss general rules and knowledge requirements of the ordering physician to request genetic testing and information on how to interpret genetic variants in a genetic report. By guiding the requests for genetic testing according to an organized model of diagnostic reasoning and with the availability of specific treatments, clinicians may find greater resoluteness and efficacy in the diagnostic investigation, shortening the struggle of patients for a definitive diagnosis.

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Andelman‐Gur, Michal M., Richard J. Leventer, Mohammad Hujirat, Christos Ganos, Keren Yosovich, Nirit Carmi, Dorit Lev, et al. "Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?" American Journal of Medical Genetics Part A 182, no. 10 (August 17, 2020): 2207–13. http://dx.doi.org/10.1002/ajmg.a.61795.

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Gorchkhanova, Z. K., E. A. Nikolaeva, A. M. Pivovarova, S. V. Bochenkov, and E. D. Belousova. "Difficulties in the differential diagnosis of Angelman’s syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 67, no. 6 (January 8, 2023): 113–22. http://dx.doi.org/10.21508/1027-4065-2022-67-6-113-122.

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Angelman syndrome is a rare neurogenetic disease caused by the loss of the function of the maternal allele of the UBE3A gene on chromosome 15 (site 15q11.2–q13) and is characterized by severe mental retardation, lack of speech, epilepsy, microcephaly and a characteristic facial phenotype with a unique behavior in the form of frequent laughter. The combination of microcephaly, epilepsy, speechlessness and mental retardation poses a problem for differential diagnosis with many genetic diseases presenting with similar symptoms. Epileptic encephalopathy due to CDKL5 gene mutation and Rett syndrome have the greatest similarity. The hallmark of Angelman syndrome are laughter attacks and specific EEG changes. The authors have presented a table of the differential diagnosis of Angelman syndrome with some phenotypically similar genetic syndromes, indicating the most significant distinguishing features, which should facilitate for the pediatrician and neurologist the diagnostic path of establishing the correct diagnosis.

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Komissarova, O. A., O. A. Milovanova, G. G. Avakyan, and S. V. Bugriy. "Childhood autism associated with neurological manifestations and corpus callosum hypoplasia: literature review and clinical cases." Epilepsy and paroxysmal conditions 12, no. 1 (April 16, 2020): 51–58. http://dx.doi.org/10.17749/2077-8333.2020.12.1.51-58.

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Aim. To consolidate literature data and to demonstrate rare hereditary neurogenetic syndromes with various neuropsychiatric manifestations and a corpus callosum (CC) structurally reduced in size.Material and methods. Full text data from scholarly journals were used for the review. Mental and neurological disorders were studied in two examined patients with neurogenetic syndromes. A brain MRI showed that it was accompanied with CC hypoplasia. We conducted comprehensive analysis of anamnestic data as well as medical genetic, neurological, psychopathological, pathopsychological, laboratory, and instrumental examinations.Results. The presented observations testified to a burdened obstetric history, dysfunctional ante-, intra-, and postnatal periods. The first patient with the Wolf-Hirschhorn syndrome was diagnosed with atypical autism associated with severe mental retardation, lack of verbal means of communication, motor stereotypes, structural focal epilepsy, cerebral palsy (CP), severe systemic speech underdevelopment; the second patient with the Prader-Willi syndrome was diagnosed with organic autism associated with mild mental retardation, impaired social adaptation in combination with stereotyped actions, impaired visual-spatial coordination, and cerebral palsy. In the first case, MRI showed posterior CC hypoplasia; in the second case, MRI showed hypoplasia of the CC isthmus.Conclusion. The level of cognitive deficit was to some extent a value associated with the thickness of the posterior CC. Apparently, a higher degree of myelination of nerve fibers contributes to a higher rate of transmission of nerve impulses along nerve fibers stimulating neurons. The results can be considered preliminary; a larger study is needed.

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Gipson, Tanjala T., and Michael V. Johnston. "Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders." Neural Plasticity 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/486402.

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Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1) and fragile X syndrome (FXS), and phosphatase and tensin homolog hamartoma syndromes (PTHS), which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling.Methods. Pubmed and Clinicaltrials.gov were searched using specific search strategies.Results/Conclusions. Although traditionally thought of as irreversible disorders, significant scientific progress has been made in both humans and preclinical models to understand how pathologic features of these neurogenetic disorders can be reduced or reversed. This paper revealed significant similarities among the conditions. Not only do they share features of impaired synaptic plasticity and dysregulation of mTOR, but they also share clinical features—autism, intellectual disability, cutaneous lesions, and tumors. Although scientific advances towards discovery of effective treatment in some disorders have outpaced others, progress in understanding the signaling pathways that connect the entire group indicates that the lesser known disorders will become treatable as well.

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Shatalin, A. V., E. V. Mukhina, A. S. Kotov, and M. G. Amirkhanyan. "Modern neurogenetic representations of MELAS syndrome. Clinical cases (the lecture)." Russian Journal of Child Neurology 14, no. 4 (May 16, 2020): 26–31. http://dx.doi.org/10.17650/2073-8803-2019-14-4-26-31.

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This lecture with a description of clinical cases presents information on such a mitochondrial disease from the group of hereditary metabolic diseases, like MELAS syndrome (OMIM: 540000). The main manifestations of this progressive disease are stroke-like episodes and a specific form of encephalopathy, including epileptic seizures with the presence of a phenomenon of "ragged red fibers" and early dementia. Clinical cases, given in this lecture, supplement the piggy bank of genetically verified mitochondrial diseases leading to the development of polymorphic neurological disorders and characteristic neuroimaging picture, namely the appearance of polymorphic ischemic changes in the temporal, parietal or occipital regions of the brain, that do not correspond to the zones of the main vascular blood supply, as the basis for the formation of such focus is the phenomenon of mitochondrial angiopathy, and not thrombosis. The description of clinical cases reflects our own observations and the main steps in the diagnosis of this severe hereditary disease, taking into account of the latest neurogenetic representations. In addition to the data given in the clinical course of the disease, the results of the genetic interpretation of the MELAS syndrome are given; modern methods of diagnosis and therapy are considered.

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Dennen, Catherine A., Kenneth Blum, Abdalla Bowirrat, Jag Khalsa, Panayotis K. Thanos, David Baron, Rajendra D. Badgaiyan, Ashim Gupta, Eric R. Braverman, and Mark S. Gold. "Neurogenetic and Epigenetic Aspects of Cannabinoids." Epigenomes 6, no. 3 (August 26, 2022): 27. http://dx.doi.org/10.3390/epigenomes6030027.

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Cannabis is one of the most commonly used and abused illicit drugs in the world today. The United States (US) currently has the highest annual prevalence rate of cannabis consumption in the world, 17.9% in individuals aged 12 or older, and it is on the rise. With increasing cannabis use comes the potential for an increase in abuse, and according to the Substance Abuse and Mental Health Services Administration (SAMHSA), approximately 5.1% of Americans had Cannabis Use Disorder (CUD) in 2020. Research has shown that genetics and epigenetics play a significant role in cannabis use and CUD. In fact, approximately 50–70% of liability to CUD and 40–48% of cannabis use initiation have been found to be the result of genetic factors. Cannabis usage and CUD have also been linked to an increased risk of psychiatric disorders and Reward Deficiency Syndrome (RDS) subsets like schizophrenia, depression, anxiety, and substance use disorder. Comprehension of the genetic and epigenetic aspects of cannabinoids is necessary for future research, treatment plans, and the production of pure cannabinoid compounds, which will be essential for FDA approval. In conclusion, having a better understanding of the epigenetic and genetic underpinnings of cannabis use, CUD, and the endocannabinoid system as a whole will aid in the development of effective FDA-approved treatment therapies and the advancement of personalized medicine.

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Mattie, Laura J., and Pamela A. Hadley. "Characterizing the Richness of Maternal Input for Word Learning in Neurogenetic Disorders." Seminars in Speech and Language 42, no. 04 (July 26, 2021): 301–17. http://dx.doi.org/10.1055/s-0041-1730914.

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AbstractPromoting language abilities, including early word learning, in children with neurogenetic disorders with associated language disorders, such as Down syndrome (DS) and fragile X syndrome (FXS), is a main concern for caregivers and clinicians. For typically developing children, the quality and quantity of maternal language input and maternal gesture use contributes to child word learning, and a similar relation is likely present in DS and FXS. However, few studies have examined the combined effect of maternal language input and maternal gesture use on child word learning. We present a multidimensional approach for coding word-referent transparency in naturally occurring input to children with neurogenetic disorders. We conceptualize high-quality input from a multidimensional perspective, considering features from linguistic, interactive, and conceptual dimensions simultaneously. Using case examples, we highlight how infrequent the moments of word-referent transparency are for three toddlers with DS during play with their mothers. We discuss the implications of this multidimensional framework for children with DS and FXS, including the clinical application of our approach to promote early word learning for these children.

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Musin, M. F., and A. F. Yusupova. "Algesic syndrome in the epigastric region in extraabdominal pathology, its place in intensive diagnosis." Kazan medical journal 78, no. 5 (October 15, 1997): 332–35. http://dx.doi.org/10.17816/kazmj83563.

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As many as 98 patients with extraabdominal pathology having pain in epigastric region as a basic symptom are examined. Among them 10 patients with neurogenetic abdominalgic syndrome and 8 patients with masked depression received due attention. The careful clinical examination before instrumentation, comprehensive anamnesis, algesic syndrome peculiarities are basic in the diagnosis, because the mechanism of its origin becomes clear at this stage. The use of uneffective, nonresultant investigation methods is excluded, the time and material expense for examination are reduced.

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LEVITIN, D. J. "Musical Behavior in a Neurogenetic Developmental Disorder: Evidence from Williams Syndrome." Annals of the New York Academy of Sciences 1060, no. 1 (December 1, 2005): 325–34. http://dx.doi.org/10.1196/annals.1360.027.

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De Molfetta, Greice Andreotti, Temis Maria Felix, Mariluce Riegel, Victor Evangelista de Faria Ferraz, and João Monteiro de Pina Neto. "A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect." Arquivos de Neuro-Psiquiatria 60, no. 4 (December 2002): 1011–14. http://dx.doi.org/10.1590/s0004-282x2002000600024.

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Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.

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Walter, E., P. K. Mazaika, and A. L. Reiss. "Corrigendum to “Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and Velocardiofacial syndrome” [Neuroscience 164 (2009) 257–271]." Neuroscience 165, no. 3 (February 2010): 1011. http://dx.doi.org/10.1016/j.neuroscience.2009.11.014.

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Jiang, Chun, Ningren Cui, Weiwei Zhong, Christopher M. Johnson, and Yang Wu. "Breathing abnormalities in animal models of Rett syndrome a female neurogenetic disorder." Respiratory Physiology & Neurobiology 245 (November 2017): 45–52. http://dx.doi.org/10.1016/j.resp.2016.11.011.

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Zarchi, O., A. Diamond, R. Weinberger, D. Abbott, M. Carmel, A. Frisch, E. Michaelovsky, et al. "A comparative study of the neuropsychiatric and neurocognitive phenotype in two microdeletion syndromes: Velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes." European Psychiatry 29, no. 4 (May 2014): 203–10. http://dx.doi.org/10.1016/j.eurpsy.2013.07.001.

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AbstractPurpose:22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are common neurogenetic microdeletion syndromes. The aim of the present study was to compare the neuropsychiatric and neurocognitive phenotypes of 22q11.2DS and WS.Methods:Forty-five individuals with 22q11.2DS, 24 with WS, 22 with idiopathic developmental disability (DD) and 22 typically developing (TD) controls were compared for the rates of psychiatric disorders as well as cognitive executive and visuospatial functions.Results:We found that while anxiety, mood and disruptive disorders had an equally high prevalence among individuals with 22q11.2DS, WS and DDs, the 22q11.2DS group had the highest rates of psychotic disorders and the WS group had the highest rates of specific phobia. We also found that the WS group demonstrated more severe impairments in both executive and visuospatial functions than the other groups. WS and 22q11.2DS subjects had worse Performance-IQ than Verbal-IQ, a feature typical of non-verbal learning disorders.Conclusion:These findings offer a wide perspective on unique versus common phenotypes in 22q11.2DS and WS.

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Sánchez, Javier, Ana Peciña, Olga Alonso-Luengo, Antonio González-Meneses, Rocío Vázquez, Guillermo Antiñolo, and Salud Borrego. "Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13." Case Reports in Genetics 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/517091.

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Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The majority of AS cases (70%) are caused by a 15q11.2-q13 deletion on the maternally derived chromosome. The frequency of AS has been estimated to be between 1/10000 and 1/20000. Klinefelter syndrome (KS) occurs due to the presence of an extra X chromosome (karyotype 47,XXY). The main features in KS are small testes, hypergonadotropic hypogonadism, gynecomastia, learning difficulties, and infertility. We present what is, to our knowledge, the first case of a patient with both KS and AS due to a 15q11.2-q13 deletion on the maternally derived chromosome and an extra X chromosome of paternal origin. He showed dysmorphic features, axial hypotonia, and delayed acquisition of motor skills. Early diagnosis is essential for optimal treatment of AS children; this is one of the earliest diagnosed cases of AS probably due to the presence of two syndromes. Clinical findings in this patient here described may be helpful to identify any other cases and to evaluate recurrence risks in these families.

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Battaglia, Agatino. "The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder." Brain and Development 27, no. 5 (August 2005): 365–69. http://dx.doi.org/10.1016/j.braindev.2004.08.006.

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Aguilera, Cinthia, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, et al. "New genes involved in Angelman syndrome-like: Expanding the genetic spectrum." PLOS ONE 16, no. 10 (October 15, 2021): e0258766. http://dx.doi.org/10.1371/journal.pone.0258766.

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Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10–15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis.

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Pina-Neto, João M. de, Victor Evangelista F. Ferraz, Greice Andreotti de Molfetta, Jess Buxton, Sarah Richards, and Sue Malcolm. "Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes." Arquivos de Neuro-Psiquiatria 55, no. 2 (June 1997): 199–208. http://dx.doi.org/10.1590/s0004-282x1997000200006.

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The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region. The predominant genetic defects in PW are 15q 11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy. In contrast, maternal deletions and paternal chromosome 15 uniparental disomy are associated with a different neurogenetic disorder, the AS. In both disorders, these mutations are associated with parent-of-origin specific methylation at several 15q 11-13 loci. We studied 5 patients suspect of PWS and 4 patients suspect of AS who were referred to the Medical Genetics Unit at the University Hospital of Medical School from Ribeirão Preto. Our objective was to establish the correct clinical and etiological diagnosis in these cases. We used conventional cytogenetics, methylation analysis with the probe KB 17 (CpG island of the SNRPN gene) by Southern blotting after digestion with the Xba I and Not I restriction enzymes. We studied in patients and their parents the segregation of the (CA)n repeats polymorphisms by PCR, using the primers 196 and IR4-3R. All the patients had normal conventional cytogenetical analysis. We confirmed 3 cases of PWS: one by de novo deletion, one by maternal chromosome 15 uniparental disomy and one case with no defined cause determined by the used primers. We confirmed 2 cases of AS, caused by de novo deletion at the 15q 11-13 region, and one case with normal molecular analysis but with strong clinical characteristics.

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Good, Jean-Marc, Isis Atallah, Mayte Castro Jimenez, David Benninger, Thierry Kuntzer, Andrea Superti-Furga, and Christel Tran. "NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges." Genes 12, no. 5 (May 6, 2021): 695. http://dx.doi.org/10.3390/genes12050695.

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The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing treatments. A 63-year-old woman with progressive cognitive decline, pyramidal signs, and bilateral cataract was treated by chenodeoxycholic acid following the diagnosis of cerebrotendinous xanthomatosis due to a homozygous variant in CYP27A1. A 32-year-old man with adult-onset spastic paraplegia, in whom a variant in ABCD1 confirmed an X-linked adrenoleukodystrophy, was treated with corticoids for adrenal insufficiency. The third patient, a 28-year-old woman with early-onset developmental delay, epilepsy, and movement disorders was treated with a ketogenic diet following the identification of a variant in SLC2A1, confirming a glucose transporter type 1 deficiency syndrome. This case study illustrates the challenges in the timely diagnosis of medically actionable neurogenetic conditions, but also the considerable potential for improving patient health through modern sequencing technologies.

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Siegert, Sandy, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, and Julia Vodopiutz. "Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family." Genes 12, no. 11 (October 20, 2021): 1648. http://dx.doi.org/10.3390/genes12111648.

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Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in FAM149B1-ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the FAM149B1-related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of FAM149B1-related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.

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Blum, Kenneth, Marlene Oscar-Berman, Zsolt Demetrovics, Debmalya Barh, and Mark S. Gold. "Genetic Addiction Risk Score (GARS): Molecular Neurogenetic Evidence for Predisposition to Reward Deficiency Syndrome (RDS)." Molecular Neurobiology 50, no. 3 (May 31, 2014): 765–96. http://dx.doi.org/10.1007/s12035-014-8726-5.

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Rondal, Jean A. "Language in mental retardation: Individual and syndromic differences, and neurogenetic variation 1Based on a keynote presentation at the Third European Conference on Psychological Theory and Research in Mental Retardation, Geneva, September 1st, 2000." Swiss Journal of Psychology 60, no. 3 (September 2001): 161–78. http://dx.doi.org/10.1024//1421-0185.60.3.161.

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Predominantly non-etiological conceptions have dominated the field of mental retardation (MR) since the discovery of the genetic etiology of Down syndrome (DS) in the sixties. However, contemporary approaches are becoming more etiologically oriented. Important differences across MR syndromes of genetic origin are being documented, particularly in the cognition and language domains, differences not explicable in terms of psychometric level, motivation, or other dimensions. This paper highlights the major difficulties observed in the oral language development of individuals with genetic syndromes of mental retardation. The extent of inter- and within-syndrome variability are evaluated. Possible brain underpinnings of the behavioural differences are envisaged. Cases of atypically favourable language development in MR individuals are also summarized and explanatory variables discussed. It is suggested that differences in brain architectures, originating in neurological development and having genetic origins, may largely explain the syndromic as well as the individual within-syndrome variability documented. Lastly, the major implications of the above points for current debates about modularity and developmental connectionism are spelt out.

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Jesse, Sarah, Jan Philipp Delling, Michael Schön, Tobias M. Boeckers, Albert Ludolph, and Makbule Senel. "Phelan McDermid Syndrome: Multiple Sclerosis as a Rare but Treatable Cause for Regression—A Case Report." International Journal of Molecular Sciences 22, no. 5 (February 25, 2021): 2311. http://dx.doi.org/10.3390/ijms22052311.

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Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and ankyrin repeat-containing protein, a gene that encodes for proteins of the postsynaptic density (PSD) of excitatory synapses. This PSD is relevant for the induction and plasticity of spine and synapse formation as a basis for learning processes and long-term potentiation. Individuals with PMcD present with intellectual disability, muscular hypotonia, and severely delayed or absent speech. Further neuropsychiatric manifestations cover symptoms of the autism spectrum, epilepsy, bipolar disorders, schizophrenia, and regression. Regression is one of the most feared syndromes by relatives of PMcD patients. Current scientific evidence indicates that the onset of regression is variable and affects language, motor skills, activities of daily living and cognition. In the case of regression, patients normally undergo further diagnostics to exclude treatable reasons such as complex-focal seizures or psychiatric comorbidities. Here, we report, for the first time, the case of a young female who developed progressive symptoms of regression and a dystonic-spastic hemiparesis that could be traced back to a comorbid multiple sclerosis and that improved after treatment with methylprednisolone.

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Wilson, Kathleen, Ethan Whitman, Allysa Warling, Ajay Nadig, Cassidy McDermott, Liv Clasen, Srishti Rau, et al. "A Framework for Modeling Familial Predictors of Proband Outcomes in Neurogenetic Disorders: Initial Findings in XYY Syndrome." Biological Psychiatry 87, no. 9 (May 2020): S355. http://dx.doi.org/10.1016/j.biopsych.2020.02.910.

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Kummerfeld, Delf-Magnus, Carsten A. Raabe, Juergen Brosius, Dingding Mo, Boris V. Skryabin, and Timofey S. Rozhdestvensky. "A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research." International Journal of Molecular Sciences 22, no. 7 (March 31, 2021): 3613. http://dx.doi.org/10.3390/ijms22073613.

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Prader-Willi syndrome (PWS) is a neurogenetic multifactorial disorder caused by the deletion or inactivation of paternally imprinted genes on human chromosome 15q11-q13. The affected homologous locus is on mouse chromosome 7C. The positional conservation and organization of genes including the imprinting pattern between mice and men implies similar physiological functions of this locus. Therefore, considerable efforts to recreate the pathogenesis of PWS have been accomplished in mouse models. We provide a summary of different mouse models that were generated for the analysis of PWS and discuss their impact on our current understanding of corresponding genes, their putative functions and the pathogenesis of PWS. Murine models of PWS unveiled the contribution of each affected gene to this multi-facetted disease, and also enabled the establishment of the minimal critical genomic region (PWScr) responsible for core symptoms, highlighting the importance of non-protein coding genes in the PWS locus. Although the underlying disease-causing mechanisms of PWS remain widely unresolved and existing mouse models do not fully capture the entire spectrum of the human PWS disorder, continuous improvements of genetically engineered mouse models have proven to be very powerful and valuable tools in PWS research.

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Nikitina, Е. А., A. V. Medvedeva, G. А. Zakharov, and Е. V. Savvateeva-Popova. "Williams Syndrome As a Model for Elucidation of the Pathway Genes - the Brain - Cognitive Functions: Genetics and Epigenetics." Acta Naturae 6, no. 1 (March 15, 2014): 9–22. http://dx.doi.org/10.32607/20758251-2014-6-1-9-22.

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Genomic diseases or syndromes with multiple manifestations arise spontaneously and unpredictably as a result of contiguous deletions and duplications generated by unequal recombination in chromosomal regions with a specific architecture. The Williams syndrome is believed to be one of the most attractive models for linking genes, the brain, behavior and cognitive functions. It is a neurogenetic disorder resulting from a 1.5 Mb deletion at 7q11.23 which covers more than 20 genes; the hemizigosity of these genes leads to multiple manifestations, with the behavioral ones comprising three distinct domains: 1) visuo-spatial orientation; 2) verbal and linguistic defect; and 3) hypersocialisation. The shortest observed deletion leads to hemizigosity in only two genes: eln and limk1. Therefore, the first gene is supposed to be responsible for cardiovascular pathology; and the second one, for cognitive pathology. Since cognitive pathology diminishes with a patients age, the original idea of the crucial role of genes straightforwardly determining the brains morphology and behavior was substituted by ideas of the brains plasticity and the necessity of finding epigenetic factors that affect brain development and the functions manifested as behavioral changes. Recently, non-coding microRNAs (miRs) began to be considered as the main players in these epigenetic events. This review tackles the following problems: is it possible to develop relatively simple model systems to analyze the contribution of both a single gene and the consequences of its epigenetic regulation in the formation of the Williams syndromes cognitive phenotype? Is it possible to use Drosophila as a simple model system?

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Debbané, M., M. Van der Linden, B. Glaser, and S. Eliez. "Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS)." Psychological Medicine 38, no. 6 (November 16, 2007): 811–20. http://dx.doi.org/10.1017/s003329170700222x.

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BackgroundSource monitoring consists in identifying the origin of mental events. Recent research suggests that confusions over internally generated mental events may represent a cognitive marker for increased proneness to psychotic symptoms and disorders. We have examined source monitoring for actions in adolescents with the 22q11.2 deletion syndrome (22q11DS), a neurogenetic disease associated with high rates of schizophrenia during adulthood, and expected to observe source monitoring deficits in comparison to IQ-matched and typically developing controls.MethodEighteen adolescents with 22q11DS, 17 adolescents matched for age and IQ, and also 17 adolescents matched for age participated in this study. Our adapted action monitoring paradigm asked subjects to visualize a series of actions in three different conditions: (1) visualize themselves performing the action; (2) visualize the experimenter performing the action; or (3) simply repeat the action statements without visualization of the action performer.ResultsThe adolescents with 22q11DS performed adequately in terms of recognition (hits), but in comparison to both control groups, they committed more source confusions on correctly recognized items. Further examination revealed that the adolescents were more likely to demonstrate confusions between exterior sources in which the self was not involved.ConclusionsSource monitoring deficits can be observed in adolescents with 22q11DS, a syndrome putting them at high risk for developing schizophrenia. These deficits are discussed in terms of early cognitive processes associated with genetic risk for schizophrenia.

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Gur, R. E., A. S. Bassett, D. M. McDonald-McGinn, C. E. Bearden, E. Chow, B. S. Emanuel, M. Owen, et al. "A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium." Molecular Psychiatry 22, no. 12 (August 1, 2017): 1664–72. http://dx.doi.org/10.1038/mp.2017.161.

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Koriath, C., J. Kenny, G. Adamson, R. Druyeh, W. Taylor, J. Beck, L. Quinn, et al. "Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series." Molecular Psychiatry 25, no. 12 (October 2, 2018): 3399–412. http://dx.doi.org/10.1038/s41380-018-0224-0.

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AbstractNext-generation genetic sequencing (NGS) technologies facilitate the screening of multiple genes linked to neurodegenerative dementia, but there are few reports about their use in clinical practice. Which patients would most profit from testing, and information on the likelihood of discovery of a causal variant in a clinical syndrome, are conspicuously absent from the literature, mostly for a lack of large-scale studies. We applied a validated NGS dementia panel to 3241 patients with dementia and healthy aged controls; 13,152 variants were classified by likelihood of pathogenicity. We identified 354 deleterious variants (DV, 12.6% of patients); 39 were novel DVs. Age at clinical onset, clinical syndrome and family history each strongly predict the likelihood of finding a DV, but healthcare setting and gender did not. DVs were frequently found in genes not usually associated with the clinical syndrome. Patients recruited from primary referral centres were compared with those seen at higher-level research centres and a national clinical neurogenetic laboratory; rates of discovery were comparable, making selection bias unlikely and the results generalisable to clinical practice. We estimated penetrance of DVs using large-scale online genomic population databases and found 71 with evidence of reduced penetrance. Two DVs in the same patient were found more frequently than expected. These data should provide a basis for more informed counselling and clinical decision making.

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Crespi, Bernard, Silven Read, Iiro Salminen, and Peter Hurd. "A genetic locus for paranoia." Biology Letters 14, no. 1 (January 2018): 20170694. http://dx.doi.org/10.1098/rsbl.2017.0694.

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The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader–Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN , mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN . Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia. These findings provide a single-locus genetic model for analysing the neurological and psychological bases of paranoid thinking, and implicate imprinted genes, and genomic conflicts, in human mentalistic thought.

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Blum, Kenneth, Thomas McLaughlin, Abdalla Bowirrat, Edward J. Modestino, David Baron, Luis Llanos Gomez, Mauro Ceccanti, et al. "Reward Deficiency Syndrome (RDS) Surprisingly Is Evolutionary and Found Everywhere: Is It “Blowin’ in the Wind”?" Journal of Personalized Medicine 12, no. 2 (February 21, 2022): 321. http://dx.doi.org/10.3390/jpm12020321.

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Reward Deficiency Syndrome (RDS) encompasses many mental health disorders, including a wide range of addictions and compulsive and impulsive behaviors. Described as an octopus of behavioral dysfunction, RDS refers to abnormal behavior caused by a breakdown of the cascade of reward in neurotransmission due to genetic and epigenetic influences. The resultant reward neurotransmission deficiencies interfere with the pleasure derived from satisfying powerful human physiological drives. Epigenetic repair may be possible with precision gene-guided therapy using formulations of KB220, a nutraceutical that has demonstrated pro-dopamine regulatory function in animal and human neuroimaging and clinical trials. Recently, large GWAS studies have revealed a significant dopaminergic gene risk polymorphic allele overlap between depressed and schizophrenic cohorts. A large volume of literature has also identified ADHD, PTSD, and spectrum disorders as having the known neurogenetic and psychological underpinnings of RDS. The hypothesis is that the true phenotype is RDS, and behavioral disorders are endophenotypes. Is it logical to wonder if RDS exists everywhere? Although complex, “the answer is blowin’ in the wind,” and rather than intangible, RDS may be foundational in species evolution and survival, with an array of many neurotransmitters and polymorphic loci influencing behavioral functionality.

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Blum, Kenneth, Marcelo Febo, Rajendra Badgaiyan, Zsolt Demetrovics, Thomas Simpatico, Claudia Fahlke, Oscar-Berman M., Mona Li, Kristina Dushaj, and Mark Gold. "Common Neurogenetic Diagnosis and Meso-Limbic Manipulation of Hypodopaminergic Function in Reward Deficiency Syndrome (RDS): Changing the Recovery Landscape." Current Neuropharmacology 15, no. 1 (December 14, 2016): 184–94. http://dx.doi.org/10.2174/1570159x13666160512150918.

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Liu, Shu, Kaihui Zhang, Fengling Song, Yali Yang, Yuqiang Lv, Min Gao, Yi Liu, and Zhongtao Gai. "Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking." Cytogenetic and Genome Research 152, no. 1 (2017): 1–8. http://dx.doi.org/10.1159/000477520.

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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause of PWS/AS, but in a small group of patients, the PWS/AS phenotype can result from maternal/paternal uniparental disomy (UPD) of chromosome 15. Various mechanisms leading to UPD include gametic complementation, trisomy rescue, and compensatory UPD, which can be inferred from the pattern of uniparental heterodisomy (heteroUPD) or uniparental isodisomy (isoUPD). However, heteroUPD and isoUPD, especially mixed heteroUPD and isoUPD, are very rare in patients with PWS/AS. Here, we report 2 children with PWS/AS caused by mixed segmental heteroUPD 15 and isoUPD 15 which failed to be identified by chromosome microarray (CMA) but could be detected by other molecular genetic methods. The present report unravels the mechanism of mixed iso/heteroUPD 15 in PWS/AS and phenotype-genotype correlations. Moreover, our study suggests that CMA is prone to misdiagnosis for imprinting disorders such as PWS/AS, though it is considered a highly useful tool for copy number variations. As a result, other molecular detection methods, such as methylation analysis and STR marker analysis for UPD, should be supplementary used in this situation.

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Almomen, MM, KA Martens, A. Hanson, L. Korngut, and G. pfeffer. "P.071 Novel mutations in SPG7 identified from patients with late-onset spasticity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (June 2018): S35. http://dx.doi.org/10.1017/cjn.2018.173.

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Background: Hereditary spastic paraplegia (HSP) is a group of genetic diseases that cause progressive degeneration of the corticospinal tract. Historically, this disease was divided into two types:the classic subtype, with leg weakness and hypertonic bladder, and the complicated subtype, with features such as cerebellar ataxia or optic atrophy.Mutations in SPG7 (encoding paraplegin) leads to complicated HSP causing cerebellar ataxia, progressive external ophthalmoplegia in addition to the classical symptoms. AFG3L2 is a binding partner of paraplegin and mutations in AFG3L2 cause a similar syndrome Methods: From a neurogenetic clinic , we identified 11 patients with late-onset HSP. Sequencing of SPG7 and AFG3L2 was performed using a customised assay, and/or clinical diagnostic sequencing panels.SPG7 transcript level quantification was performed from whole blood RNA on a digital droplet qPCR system. Results: We identified 4 patients with pathogenic variants or variants of unknown significance in SPG7. No AFG3L2 mutations were identified. We provide evidence for pathogenicity for three mutations that were not previously associated with SPG7-related disease, based on their occurrence in context of the correct phenotype, and the reduction of transcript levels measured with RT-qPCR.A curious association of the heterozygous p.Gly349Ser mutation in association with an ALS-like syndrome is reported. Conclusions:SPG7 mutations sequencing has high diagnostic yield in late onset paraparesis

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Järvinen-Pasley, Anna, Ursula Bellugi, Judy Reilly, Debra L. MILLS, Albert Galaburda, Allan L. Reiss, and Julie R. Korenberg. "Defining the social phenotype in Williams syndrome: A model for linking gene, the brain, and behavior." Development and Psychopathology 20, no. 1 (2008): 1–35. http://dx.doi.org/10.1017/s0954579408000011.

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AbstractResearch into phenotype–genotype correlations in neurodevelopmental disorders has greatly elucidated the contribution of genetic and neurobiological factors to variations in typical and atypical development. Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene–brain–behavior relationships. WS is a neurogenetic disorder caused by a hemizygous deletion of approximately 25 genes on chromosome 7q11.23. This results in a cascade of physical, cognitive–behavioral, affective, and neurobiological aberrations. WS is associated with a markedly uneven neurocognitive profile, and the mature state cognitive profile of WS is relatively well developed. Although anecdotally, individuals with WS have been frequently described as unusually friendly and sociable, personality remains a considerably less well studied area. This paper investigates genetic influences, cognitive–behavioral characteristics, aberrations in brain structure and function, and environmental and biological variables that influence the social outcomes of individuals with WS. We bring together a series of findings across multiple levels of scientific enquiry to examine the social phenotype in WS, reflecting the journey from gene to the brain to behavior. Understanding the complex multilevel scientific perspective in WS has implications for understanding typical social development by identifying important developmental events and markers, as well as helping to define the boundaries of psychopathology.

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Kengne Kamga, Karen, Séraphin Nguefack, Khuthala Minka, Edmond Wonkam Tingang, Alina Esterhuizen, Syntia Nchangwi Munung, Jantina De Vries, and Ambroise Wonkam. "Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)." Genes 11, no. 2 (January 28, 2020): 136. http://dx.doi.org/10.3390/genes11020136.

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Fragile X Syndrome (FXS), an X-linked dominant monogenic condition, is the main genetic cause of intellectual disability (ID) and autism spectrum disorder (ASD). FXS is associated with an expansion of CGG repeat sequence in the Fragile X Mental Retardation gene 1 (FMR1) on chromosome X. Following a neuropediatric assessment of two male siblings who presented with signs of FXS that was confirmed with molecular testing, we provided cascade counselling and testing to the extended family. A total of 46 individuals were tested for FXS; among them, 58.70% (n = 27) were females. The mean age was 9.4 (±5) years for children and 45.9 (±15.9) years for adults. Pedigree analysis suggested that the founder of these families was likely a normal transmitting male. Four out of 19 males with clinical ID were confirmed to have a full mutation for FXS, while 14/27 females had a pathologic CGG expansion (>56 CGG repeats) on one of their X chromosomes. Two women with premature menopause were confirmed of being carriers of premutation (91 and 101 CGG repeats). We also identified maternal alleles (91 and 126 CGG repeats) which expanded to a full mutation in their offspring (>200 CGG repeats). This study is a rare report on FXS from Africa and illustrates the case scenario of implementing genetic medicine for a neurogenetic condition in a rural setting.

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Serur, Yaffa, Dafin Sofrin Frumber, Keren Daon, Dolly Sobal-Havia, Ronnie Weinberger, Cory Shulman, and Doron Gothelf. "Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism." European Psychiatry 55 (January 2019): 116–21. http://dx.doi.org/10.1016/j.eurpsy.2018.10.007.

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AbstractThe 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD.We identified the psychiatric disorders and autistic phenotype of young children with 22q11DS (age 3–8 years) and compared them with those of age and sex-matched children with idiopathic autism (iASD). We used the gold standard psychiatric and ASD assessments including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and a clinical examination by a child psychiatrist.Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including anxiety disorders and ADHD, and 16% met strict criteria for ASD. Children with 22q11DS and ASD symptoms had less severe overall ASD symptoms than those with iASD. Children with 22q11DS, regardless of ASD diagnosis, were characterized by repetitive restricted behaviors.Our results highlight the need to screen for psychiatric disorders in 22q11DS and treat them already in preschool years.

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Heaney, Alice, Jeanette Wilburn, Shannon Langmead, Jaishri Blakeley, Susan Huson, Carly Jim, and Stephen P. McKenna. "A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1." SAGE Open Medicine 7 (January 2019): 205031211982968. http://dx.doi.org/10.1177/2050312119829680.

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Objective: To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background: Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning. A common manifestation of neurofibromatosis type 1 is plexiform neurofibromas, non-cancerous tumours that can cause disfigurement, pain and neurologic disability. Patient-reported outcome measures used in this condition have addressed symptoms and functional ability but not how the condition affects patients’ lives, particularly, their ability to meet their human needs. Methods: Unstructured qualitative interviews were conducted with adults with neurofibromatosis type 1–associated plexiform neurofibromas in the United Kingdom and United States. Interviewees were encouraged to describe how plexiform neurofibromas affected their ability to meet their needs. Interviews were audio-recorded and transcribed verbatim. The UK and US transcripts were combined and theoretical thematic analysis was conducted. Results: In all, 42 interviews (United Kingdom = 20, United States = 22) were conducted. Transcripts revealed 696 statements on the impact of plexiform neurofibromas on need fulfilment. Five major themes emerged: appearance, relationships, independence, role fulfilment and pleasure. Conclusion: Neurofibromatosis type 1–associated plexiform neurofibromas have a major effect on individuals’ ability to meet their needs. An understanding of need fulfilment will complement information generated from traditional patient-reported outcome measures, particularly in a multi-faceted syndrome such as neurofibromatosis type 1.

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Semenzin, Chiara, Lisa Hamrick, Amanda Seidl, Bridgette L. Kelleher, and Alejandrina Cristia. "Describing Vocalizations in Young Children: A Big Data Approach Through Citizen Science Annotation." Journal of Speech, Language, and Hearing Research 64, no. 7 (July 16, 2021): 2401–16. http://dx.doi.org/10.1044/2021_jslhr-20-00661.

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Purpose Recording young children's vocalizations through wearables is a promising method to assess language development. However, accurately and rapidly annotating these files remains challenging. Online crowdsourcing with the collaboration of citizen scientists could be a feasible solution. In this article, we assess the extent to which citizen scientists' annotations align with those gathered in the lab for recordings collected from young children. Method Segments identified by Language ENvironment Analysis as produced by the key child were extracted from one daylong recording for each of 20 participants: 10 low-risk control children and 10 children diagnosed with Angelman syndrome, a neurogenetic syndrome characterized by severe language impairments. Speech samples were annotated by trained annotators in the laboratory as well as by citizen scientists on Zooniverse. All annotators assigned one of five labels to each sample: Canonical, Noncanonical, Crying, Laughing, and Junk. This allowed the derivation of two child-level vocalization metrics: the Linguistic Proportion and the Canonical Proportion. Results At the segment level, Zooniverse classifications had moderate precision and recall. More importantly, the Linguistic Proportion and the Canonical Proportion derived from Zooniverse annotations were highly correlated with those derived from laboratory annotations. Conclusions Annotations obtained through a citizen science platform can help us overcome challenges posed by the process of annotating daylong speech recordings. Particularly when used in composites or derived metrics, such annotations can be used to investigate early markers of language delays.

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Blum, Kenneth, Shan Kazmi, Edward J. Modestino, Bill William Downs, Debasis Bagchi, David Baron, Thomas McLaughlin, et al. "A Novel Precision Approach to Overcome the “Addiction Pandemic” by Incorporating Genetic Addiction Risk Severity (GARS) and Dopamine Homeostasis Restoration." Journal of Personalized Medicine 11, no. 3 (March 16, 2021): 212. http://dx.doi.org/10.3390/jpm11030212.

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This article describes a unique therapeutic precision intervention, a formulation of enkephalinase inhibitors, enkephalin, and dopamine-releasing neuronutrients, to induce dopamine homeostasis for detoxification and treatment of individuals genetically predisposed to developing reward deficiency syndrome (RDS). The formulations are based on the results of the addiction risk severity (GARS) test. Based on both neurogenetic and epigenetic evidence, the test evaluates the presence of reward genes and risk alleles. Existing evidence demonstrates that the novel genetic risk testing system can successfully stratify the potential for developing opioid use disorder (OUD) related risks or before initiating opioid analgesic therapy and RDS risk for people in recovery. In the case of opioid use disorders, long-term maintenance agonist treatments like methadone and buprenorphine may create RDS, or RDS may have been in existence, but not recognized. The test will also assess the potential for benefit from medication-assisted treatment with dopamine augmentation. RDS methodology holds a strong promise for reducing the burden of addictive disorders for individuals, their families, and society as a whole by guiding the restoration of dopamine homeostasisthrough anti-reward allostatic neuroadaptations. WC 175.

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Abijo, Tomilowo, Kenneth Blum, and Marjorie C. Gondré-Lewis. "Neuropharmacological and Neurogenetic Correlates of Opioid Use Disorder (OUD) As a Function of Ethnicity: Relevance to Precision Addiction Medicine." Current Neuropharmacology 18, no. 7 (July 28, 2020): 578–95. http://dx.doi.org/10.2174/1570159x17666191118125702.

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Background: Over 100 people die daily from opioid overdose and $78.5B per year is spent on treatment efforts, however, the real societal cost is multifold greater. Alternative strategies to eradicate/manage drug misuse and addiction need consideration. The perception of opioid addiction as a social/criminal problem has evolved to evidence-based considerations of them as clinical disorders with a genetic basis. We present evaluations of the genetics of addiction with ancestryspecific risk profiles for consideration. Objective: Studies of gene variants associated with predisposition to substance use disorders (SUDs) are monolithic, and exclude many ethnic groups, especially Hispanics and African Americans. We evaluate gene polymorphisms that impact brain reward and predispose individuals to opioid addictions, with a focus on the disparity of research which includes individuals of African and Hispanic descent. Methodology: PubMed and Google Scholar were searched for: Opioid Use Disorder (OUD), Genome- wide association studies (GWAS); genetic variants; polymorphisms, restriction fragment length polymorphisms (RFLP); genomics, epigenetics, race, ethnic group, ethnicity, ancestry, Caucasian/ White, African American/Black, Hispanic, Asian, addictive behaviors, reward deficiency syndrome (RDS), mutation, insertion/deletion, and promotor region. Results: Many studies exclude non-White individuals. Studies that include diverse populations report ethnicity-specific frequencies of risk genes, with certain polymorphisms specifically associated with Caucasian and not African-American or Hispanic susceptibility to OUD or SUDs, and vice versa. Conclusion: To adapt precision medicine-based addiction management in a blended society, we propose that ethnicity/ancestry-informed genetic variations must be analyzed to provide real precision- guided therapeutics with the intent to attenuate this uncontrollable fatal epidemic.

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Guo, Miao, Yucai Chen, Longlong Lin, Yilin Wang, Anqi Wang, Fang Yuan, Chunmei Wang, Simei Wang, and Yuanfeng Zhang. "The Study on the Clinical Phenotype and Function of HPRT1 Gene." Child Neurology Open 9 (January 2022): 2329048X2211088. http://dx.doi.org/10.1177/2329048x221108821.

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Background: Lesch-Nyhan disease (LND) is a rare x-linked purine metabolic neurogenetic disease caused by enzyme hypoxanthine-guanine phosphoriribosyltransferase(HGprt) deficiency, also known as self-destructive appearance syndrome. A series of manifestations are caused by abnormal purine metabolism. The typical clinical manifestations are hyperuricemia, growth retardation, mental retardation, short stature, dance-like athetosis, aggressive behavior, and compulsive self-harm. Methods: We identified a point mutation c.151C > T (p. Arg51*) in a pedigree. We analyzed the clinical characteristics of children in a family, and obtained the blood of their parents and siblings for second-generation sequencing. At the same time, we also analyzed and compared the expression of HPRT1 gene and predicted the three-dimensional structure of the protein. And we analyzed the clinical manifestations caused by the defect of the HPRT1 gene. Results: The mutation led to the termination of transcription at the 51st arginine, resulting in the production of truncated protein, and the relative expression of HPRT1 gene in patients was significantly lower than other family members and 10 normal individuals. Conclusion: This mutation leads to the early termination of protein translation and the formation of a truncated HPRT protein, which affects the function of the protein and generates corresponding clinical manifestations.

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Pinto, Irene Plaza, Lysa Bernardes Minasi, Cláudio Carlos da Silva, and Aparecido Divino da Cruz. "Identification of 1q21.1 microduplication by microarray analysis in a boy with intellectual disability." Semina: Ciências Biológicas e da Saúde 38, no. 1supl (February 16, 2018): 186. http://dx.doi.org/10.5433/1679-0367.2017v38n1suplp186.

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Chromosomal 1q21.1 region is structurally complex with a presence of large paralogous segmental duplications that make this region susceptible to non-allelic homologous recombination causing a spectrum of recurrent rearrangements, including deletions and duplications. Chromosome 1q21.1 Duplication Syndrome (MIM612475) is a rare genomic disorder caused by microduplications of an approximately 1.35 Mb and includes at least 12 genes. This syndrome has been associated with variable phenotypes including intellectual disability, autism, dysmorphic features, macrocephaly, congenital heart anomalies or normal phenotype. Herein, we report the first case of a boy who presented intellectual disability, behavior disorder, clinodactyly, facial dysmorphism such as frontal bossing and hypertelorism, and low-set ears with paternal inherited 1q21.1 microduplication in Central Brazil. Karyotyping at > 550 band resolution showed a male karyotype (46,XY). Chromosomal Microarray Analysis (CMA) using GeneChip® CytoScanHDTM array revealed paternal inherited 1.92 Mb microduplication at 1q21.1q21.2 (145,895,746-147,819,294) x3, encompassing 13 morbid genes (NBPF10, HYDIN2, NBPF12, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, NBPF11, and NBPF8). Duplication at 1q21.1 region has been reported in phenotypically affected individuals and apparently normal carriers. We detected microduplication at 1q21.1 in an affected boy who his father is asymptomatic. CHD1L gene has been involved with chromatin remodeling as well as DNA damage response and chromatin remodeling has been implicated in developmental and intellectual disability disorders. The HYDIN2 gene, a paralogous segment of the primary ciliary dyskinesia-associated gene HYDIN is exclusively expressed in the brain, and dosage sensitivity of HYDIN2 gene was responsible for the variation in head circumference. NBPF10, NBPF12, NBPF11 and NBPF8 genes are member of the neuroblastoma breakpoint family (NBPF) and copy number variations involving these genes have been implicated in a number of developmental and neurogenetic diseases. The CMA was a powerful and efficient method to identify at the first time in Central Brazil the 1q21.1 microduplication in a boy with intellectual disability and dysmorphic features. Furthermore, it is recommended the family to do genetic counseling to provide information and help to understand about the penetrance and variable expressivity related to this syndrome, the familial implications of genetic contribution to disease and the chance of disease recurrence.

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Goldson, Edward. "Neurogenetic Syndromes." Journal of Developmental & Behavioral Pediatrics 33, no. 3 (April 2012): 260. http://dx.doi.org/10.1097/dbp.0b013e31825577b3.

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Kim, Min-Jee, Mi-Sun Yum, Go Hun Seo, Yena Lee, Han Na Jang, Tae-Sung Ko, and Beom Hee Lee. "Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders." Journal of Clinical Medicine 9, no. 11 (November 20, 2020): 3724. http://dx.doi.org/10.3390/jcm9113724.

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Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders. Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in the pediatric neurology clinic and medical genetics center. The clinical presentation, laboratory findings including the genetic results from WES, and diagnosis-based treatment and outcomes of the four patients are discussed. Results: A total of 376 children with neurodevelopmental symptom were evaluated by WES, and four patients (1.1%) were diagnosed with treatable neurologic disorders. Patient 1 (Pt 1) showed global muscle hypotonia, dysmorphic facial features, and multiple anomalies beginning in the perinatal period. Pt 1 was diagnosed with congenital myasthenic syndrome 22 of PREPL deficiency. Pt 2 presented with hypotonia and developmental arrest and was diagnosed with autosomal recessive dopa-responsive dystonia due to TH deficiency. Pt 3, who suffered from intractable epilepsy and progressive cognitive decline, was diagnosed with epileptic encephalopathy 47 with a heterozygous FGF12 mutation. Pt 4 presented with motor delay and episodic ataxia and was diagnosed with episodic ataxia type II (heterozygous CACNA1A mutation). The patients’ major neurologic symptoms were remarkably relieved with pyridostigmine (Pt 1), levodopa (Pt 2), sodium channel blocker (Pt 3), and acetazolamide (Pt 4), and most patients regained developmental milestones in the follow-up period (0.4 to 3 years). Conclusions: The early application of WES helps in the identification of extremely rare genetic diseases, for which effective treatment modalities exist. Ultimately, WES resulted in optimal clinical outcomes of affected patients.

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Journal articles on the topic 'Neurogenetic syndrome'

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