Articoli di riviste: "Genetic disorders in children"

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Ćirić, Sanela. "DIFFERENCES IN PARENTS' ATTITUDES TOWARDS THE CAUSES OF NEURODEVELOPMENTAL DISORDERS". Multidisciplinarni Pristupi u Edukaciji i Rehabilitaciji 6, n. 7 (15 agosto 2024): 161–70. http://dx.doi.org/10.59519/mper6115.

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Neurodevelopmental disorders are a heterogeneous group of clinical conditions characterized by deficits in one or more aspects of development, with the most prevalent subgroups being autism spectrum disorders and intellectual developmental disorders. Longitudinal studies have shown a significant increase in the number of children with autism spectrum disorders over the past few decades compared to the stable prevalence of intellectual developmental disorders. The aim of this study was to examine and compare the attitudes of parents of children with autism spectrum disorders and parents of children with intellectual developmental disorders regarding genetics, vaccination, and stress as causes of these disorders. The sample consisted of 80 parents, with 40 parents of children with intellectual developmental disorders and 40 parents of children with autism spectrum disorders. The study used a survey as the instrument, employing content analysis, interviewing, and scaling techniques. Data were statistically analyzed using quantitative methods in the JASP program. The results showed that parents' attitudes towards genetics as a cause did not statistically differ, with the most of parents not considering genetics as a cause of neurodevelopmental disorders (40%). There was a notable difference between these two subgroups of neurodevelopmental disorders in the number of children who had undergone genetic testing. A third of the participants expressed a negative attitude towards genetic testing in the future. A statistically significant difference was confirmed in attitudes towards vaccination as a cause of disorders. While most parents did not believe that stress caused their child's disorder, a higher number of parents with children who have intellectual developmental disorders cited stress as a contributing factor. Well-informed parents about the origins of neurodevelopmental disorders influence the lives of entire families, reducing the risk of unnecessary exposure of children to various interventions and treatments.

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Fisch, Gene S., Nancy Carpenter, Patricia N. Howard-Peebles, Jeanette J. A. Holden, Jack Tarleton, Richard Simensen e Agatino Battaglia. "Developmental Trajectories in Syndromes With Intellectual Disability, With a Focus on Wolf-Hirschhorn and Its Cognitive–Behavioral Profile". American Journal on Intellectual and Developmental Disabilities 117, n. 2 (1 febbraio 2012): 167–79. http://dx.doi.org/10.1352/1944-7558-117.2.167.

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Abstract Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn syndrome, assessing their intellectual and adaptive behavior abilities. We retested 61 children 2 years later. We compared Time 1 and Time 2 difference scores related to genetic disorder, age, initial IQ, or adaptive behavior composite. Results show genetic disorder and initial IQ score were significant factors for IQ differences, but only genetic disorder affected adaptive behavior differences. Results suggest different gene-brain-behavior pathways likely exist for these genetic disorders. Different developmental trajectories will influence the type and intensity of intervention implemented by caregivers.

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Lashwood, Alison. "Preimplantation genetic diagnosis to prevent genetic disorders in children". British Journal of Nursing 14, n. 2 (gennaio 2005): 64–70. http://dx.doi.org/10.12968/bjon.2005.14.2.17433.

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Barrie, Alpha-Umaru. "Youth perspectives on genetic inheritance, carrier status and disclosure". Journal of Haemophilia Practice 3, n. 2 (1 luglio 2016): 21–28. http://dx.doi.org/10.17225/jhp00077.

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Abstract Knowledge about genetic inheritance as a concept in children and young people with bleeding disorders is synonymous, in many ways, with other inherited genetic conditions. Children and young people have a more physiological understanding of inheritance, but may hold mistaken and inaccurate beliefs in understanding basic genetics. There are complex ethical and social problems in the genetic testing of youngsters with bleeding disorders to establish carrier status. Current guideline recommendations indicate circumstances where clear psychosocial and medical benefits can be demonstrated. However, children and young people have a reduced capacity to understand the tests and their implications, and in many cases family communication may impact the extent of disclosure of genetic risk factors. This paper explores the genetics of inherited bleeding disorders, including basic knowledge of the concept of inheritance and reproductive risks. Carrier status in children and young people will be considered, drawing on legal rulings that may shed light on best practice in establishing carrier status based on genetic testing. Communication patterns within families around inherited bleeding disorders and the complicated process of disclosure will also be discussed.

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Rudin, I. V. "SPEECH DISORDERS OF GENETIC ORIGIN IN TEACHING PRACTICE". Education & Pedagogy Journal, n. 1(1) (6 luglio 2021): 56–63. http://dx.doi.org/10.23951/2782-2575-2021-1-56-63.

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In recent years, there has been a significant increase in children with various speech disorders. Also, identifying the factors causing these disorders early and providing proper support is increasingly important. If the steps to correct such speech disorders are not taken quickly, secondary issues, such as communication, socialization, and educational problems, are observed. Training and corrective measures should be carried out while considering both the individual’s psychological and physiological characteristics. Identifying the cause and symptoms of a speech disorder plays an important role when developing a plan for a child’s education, upbringing, and development. These measures are crucial to providing the most suitable help to children with such disorders. The signs identified during diagnosis and those revealing the causes of the speech disorders are vital for outlining a pathogenetic description of the disorder and prescribing a set of corrective measures. Speech disorders indicate the intactness of a large part of the central nervous system, including motor and sensory areas. Moreover, they have diagnostic applications in cases of organic brain damage, malfunctions in the development of the nervous system, and mental retardation of various origins. The pedagogical process must include a full examination, as well as the proper combined support by speech disorder specialists. It is possible to carry out differential diagnoses of speech function disorders using the results of genetic studies and prepare correctional programs tailored to the identified disorders.

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Mueller, Sven C., Pamela Ng, Ninet Sinaii, Ellen W. Leschek, Liza Green-Golan, Carol VanRyzin, Monique Ernst e Deborah P. Merke. "Psychiatric characterization of children with genetic causes of hyperandrogenism". European Journal of Endocrinology 163, n. 5 (novembre 2010): 801–10. http://dx.doi.org/10.1530/eje-10-0693.

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ObjectiveVery little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group.Design/methodsChildren (8–18 years) with the diagnosis of classic congenital adrenal hyperplasia (CAH) or familial male precocious puberty (FMPP) underwent a semi-structured psychiatric interview, the Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version. According to sex and the literature, incidence of identified psychopathology was compared between the two endocrinological groups. We evaluated 72 patients: 54 CAH (21 females) and 18 FMPP.ResultsTwenty-four (44.4%) CAH patients and 10 (55.6%) FMPP patients met the criteria for at least one lifetime psychiatric diagnosis. Attention-deficit hyperactivity disorder (ADHD) was present in 18.2% of CAH males, 44.4% of FMPP males, and one case (4.8%) in CAH females. A high rate of anxiety disorders was also found in all the three groups (17–21%). Relative to females with CAH, the FMPP patients exhibited higher rates of ADHD. Age at diagnosis and the treatment modalities were not associated with psychopathology. Rates of psychiatric disorder, specifically ADHD and anxiety disorders, were higher than in the general population.ConclusionAlthough anxiety disorders may occur at an increased rate in children with chronic illness, androgens may contribute to higher risk for psychopathology in pediatric patients with genetic cause of excess androgen. Early diagnosis and treatment of childhood hyperandrogenism is essential for optimal development. The results suggest that assessment for psychiatric disorders should be part of the routine evaluation of these patients.

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Zhestkova, M. A., e D. Yu Ovsyannikov. "GENETIC DISORDERS OF SURFACTANT PROTEINS". Pediatria. Journal named after G.N. Speransky 100, n. 5 (11 ottobre 2021): 82–89. http://dx.doi.org/10.24110/0031-403x-2021-100-5-82-89.

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The literature review provides up-to-date information on rare interstitial lung diseases, manifesting both in children, starting from the neonatal period, and in adults, – genetic disorders of surfactant proteins B, C, ATP-binding cassette protein A3 (ABCA3), manifested by such histopathological patterns, as chronic pneumonitis of infants, pulmonary alveolar proteinosis, desquamative interstitial pneumonia , nonspecific interstitial pneumonia. Information on epidemiology, genetics, pathogenesis, clinical picture, diagnosis and differential diagnosis, treatment of these diseases is given.

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You, Haizhen, Junyao Shi, Fangfang Huang, Zhiyun Wei, Gary Jones, Wenchong Du e Jing Hua. "Advances in Genetics and Epigenetics of Developmental Coordination Disorder in Children". Brain Sciences 13, n. 6 (11 giugno 2023): 940. http://dx.doi.org/10.3390/brainsci13060940.

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Developmental coordination disorder (DCD) is a developmental disorder characterized by impaired motor coordination, often co-occurring with attention deficit disorder, autism spectrum disorders, and other psychological and behavioural conditions. The aetiology of DCD is believed to involve brain changes and environmental factors, with genetics also playing a role in its pathogenesis. Recent research has identified several candidate genes and genetic factors associated with motor impairment, including deletions, copy number variations, single nucleotide polymorphisms, and epigenetic modifications. This review provides an overview of the current knowledge in genetic research on DCD, highlighting the importance of continued research into the underlying genetic mechanisms. While evidence suggests a genetic contribution to DCD, the evidence is still in its early stages, and much of the current evidence is based on studies of co-occurring conditions. Further research to better understand the genetic basis of DCD could have important implications for diagnosis, treatment, and our understanding of the condition’s aetiology.

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Pletcher, Beth A., e Nelson L. Turcios. "Pulmonary Manifestations of Genetic Disorders in Children". Pediatric Clinics of North America 68, n. 1 (febbraio 2021): 1–24. http://dx.doi.org/10.1016/j.pcl.2020.09.010.

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Clauss, Sarah B., e Peter O. Kwiterovich. "Genetic disorders of lipoprotein transport in children". Progress in Pediatric Cardiology 17, n. 2 (settembre 2003): 123–33. http://dx.doi.org/10.1016/s1058-9813(03)00049-3.

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Morozova, E. A., M. V. Belousova, D. V. Morozov, D. I. Gabelko e V. V. Bogolyubova. "Genetic aspects of speech disorders in children". Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova 123, n. 9 (2023): 87. http://dx.doi.org/10.17116/jnevro202312309287.

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Frans, E. M., P. Lichtenstein, C. M. Hultman e R. Kuja-Halkola. "Age at fatherhood: heritability and associations with psychiatric disorders". Psychological Medicine 46, n. 14 (12 agosto 2016): 2981–88. http://dx.doi.org/10.1017/s0033291716001744.

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BackgroundAdvancing paternal age has been linked to psychiatric disorders. These associations might be caused by the increased number of de novo mutations transmitted to offspring of older men. It has also been suggested that the associations are confounded by a genetic liability for psychiatric disorders in parents. The aim of this study was to indirectly test the confounding hypotheses by examining if there is a genetic component to advancing paternal age and if men with a genetic liability for psychiatric disorders have children at older ages.MethodWe examined the genetic component to advancing paternal age by utilizing the twin model in a cohort of male twins (N = 14 679). We also studied ages at childbirth in men with or without schizophrenia, bipolar disorder and/or autism spectrum disorder. Ages were examined in: (1) healthy men, (2) affected men, (3) healthy men with an affected sibling, (4) men with healthy spouses, (5) men with affected spouses, and (6) men with healthy spouses with an affected sibling.ResultsThe twin analyses showed that late fatherhood is under genetic influence (heritability = 0.33). However, affected men or men with affected spouses did not have children at older ages. The same was found for healthy individuals with affected siblings. Instead, these men were generally having children at younger ages.ConclusionAlthough there is a genetic component influencing late fatherhood, our data suggest that the associations are not explained by psychiatric disorders or a genetic liability for psychiatric disorders in the parent.

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Felsenfeld, Susan, e Robert Plomin. "Epidemiological and Offspring Analyses of Developmental Speech Disorders Using Data From the Colorado Adoption Project". Journal of Speech, Language, and Hearing Research 40, n. 4 (agosto 1997): 778–91. http://dx.doi.org/10.1044/jslhr.4004.778.

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Although the adoption design is the most powerful method to disentangle nature and nurture, it has not been applied previously to developmental speech or language disorders. The present study examined the speech outcomes of 156 adopted and nonadopted children at varying risk for speech disorders based upon self-reported parental speech history. The sample consisted of four groups: a) 16 adopted children with an affected biological parent; (b) 19 adopted children with an affected adoptive parent; (c) 31 nonadopted children with an affected natural parent; and (d) 90 low-risk adopted and nonadopted children with no parental speech disorder history. Results revealed that 25% of the children with a genetic background of speech disorder displayed questionable speech, language, or fluency skills at age 7, in comparison to 9% of the children with no known genetic history. Logistic regression analyses indicated that positive biological parental background was the best predictor of offspring affected status. The child’s Full-Scale IQ and the HOME Scale of family environment were not significantly associated with speech outcome. These results provide additional evidence that genetic factors contribute importantly to the vertical transmission of some developmental speech disorders of unknown origin.

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Pak, Lale A., Kirill V. Savostyanov, Lyudmila M. Kuzenkova, Alexander A. Pushkov, Ilya S. Zhanin e Eugeniya V. Uvakina. "Molecular genetic diagnosis of speech disorders in children". L.O. Badalyan Neurological Journal 3, n. 1 (30 marzo 2022): 7–13. http://dx.doi.org/10.46563/2686-8997-2022-3-1-7-13.

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Introduction. Speech disorders (SD) are one of the urgent problems of childhood neurology. Despite the long history of studying speech disorders in children, the use of modern instrumental research in the diagnosis, the use of various therapeutic techniques for their correction, scientific interest in understanding the pathogenetic foundations of these disorders remains relatively high. In recent years, much attention has been paid to studying the genetic causes of the development of this pathology. Currently, data are presented on more than 20 candidate genes that may determine isolated speech disorders or their combination with other cognitive disorders. The study of the molecular and genetic foundations of speech disorders in children will expand clinicians’ understanding of the pathogenesis of speech disorders and optimize diagnostic approaches. The aim of the study is to investigate the structure of SD and diseases and to define clinically significant nucleotide variants leading to various diseases, the phenotype of which includes SD. Materials and methods. One hundred sixty 2 to 7-year children with speech disorders aged were under observation, 93 (58.1%) girls and 67 (41.9%) boys were hospitalized into the Department of Neuropsychiatry and psychosomatic pathology and the Department of Pathology of early Childhood of the of National Medical Research Center for Children’s Health of the Ministry of Health of Russian Federation. All observed patients underwent sequencing of the clinical exome by mass parallel sequencing. Results. Sequencing the clinical exome in SD children makes it possible to detect clinically significant nucleotide variants leading to various diseases, including speech disorders. The most common speech disorders in children are clinical manifestations of hereditary diseases. In 5 (3.1%) of the observed patients, nucleotide variants were found during a molecular genetic study that can cause diseases in which speech and intellectual-mnestic disorders are among the main clinical manifestations. Conclusion. There were studied molecular genetic features of speech disorders in 160 children. The continuation of clinical studies aimed at searching for pathogenic genome variants leading to speech and intellectual-mnestic disorders in a representative sample of patients with speech disorders will resolve the issue of the feasibility of including sequencing of the clinical exome in the diagnostic algorithm of speech disorders in children.

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Luhrs, Kyleen, Tracey Ward, Caitlin M. Hudac, Jennifer Gerdts, Holly A. F. Stessman, Evan E. Eichler e Raphael A. Bernier. "Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism". Autism Research and Treatment 2017 (2017): 1–9. http://dx.doi.org/10.1155/2017/9371964.

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The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n=62), de novo deletion copy number variations (DEL, n=74), de novo likely gene-disrupting mutations (LGDM, n=267), and children without a known genetic etiology (NON, n=2111). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships.

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Cerniglia, Luca. "Neurobiological, Genetic, and Epigenetic Foundations of Eating Disorders in Youth". Children 11, n. 3 (23 febbraio 2024): 274. http://dx.doi.org/10.3390/children11030274.

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Eating disorders (EDs), encompassing conditions such as anorexia nervosa, bulimia nervosa, and binge eating disorder, represent a significant public health concern, particularly among children and adolescents [...]

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Glotov, O. S., A. N. Chernov, P. A. Suchko, Yu A. Eismont e L. A. Mayorova. "Formation of cognitive processes in children with autism. Part II. Genetic mechanisms". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, n. 2 (8 maggio 2024): 26–33. http://dx.doi.org/10.21508/1027-4065-2024-69-2-26-33.

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Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2% of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about symptoms, genetic etiological factors that associated with autism, examines the possibility of using genes as diagnostic biomarkers in children with autism spectrum disorders. Analysis of literature data shows that disorders of attention, speed of information processing, working memory, learning are based on genetic (mutations, SNPs) and epigenetic (methylation) changes in the expression of many genes: BDNF, CAPS2, CNTNAP2, GABRB3, FMR1, FOXP1, GTF2I, HSD11B2, MECP2, NF2, NGF, NR3C1, OXTR, PAK2, RELN, SLC6A4, UBE3A, etc. Some of these genes (RELN) are associated with ASD severity.

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Kuraeva, Tamara Leonidovna, Elena Aleksandrovna Sechko, Lubov' Iosifovna Zilberman, Olga Nikolaevna Ivanova, Aleksandr Yurievich Mayorov, Ekaterina Olegovna Koksharova, Valentina Aleksandrovna Peterkova e Ivan Ivanovich Dedov. "Molecular genetic and clinical variants MODY2 and MODY3 in children in Russia". Problems of Endocrinology 61, n. 5 (28 gennaio 2016): 14–25. http://dx.doi.org/10.14341/probl201561514-25.

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Aim — to research molecular genetic and clinical characteristics of diabetes mellitus MODY2 and MODY3 in children.Material and methods. Genetic testing for GCK and HNF1α was performed in 169 patients with carbohydrate metabolism disorders, with age of diagnosis under 18. Carbohydrate metabolism disorders were interpreted as MODY. Analysis of clinical data at the presentation of carbohydrate metabolism disorder and cases follow-up was provided in 62 patients with genetic confirmed MODY2 and 18 patients with genetic confirmed MODY3.Results. Ratio MODY2 and MODY3 was 3,4:1. Carbohydrate metabolism disorders were diagnosed earlier in MODY2 than in MODY3 — 7,8 years (4,0; 10,5) vs. 11,8 years (9,7; 13,5) (p<0,01). Degree of carbohydrate metabolism disorder was less in MODY2 — in 22,4% of patients all makers of carbohydrate metabolism disorder (HbA1c, fasting glycaemia, 120 min glycaemia) were less than diabetic range, in MODY3 all these makers were diabetics in 100% of cases. Patients with MODY2 significantly less frequently were treated with antihyperglycemic drugs. Carbohydrate metabolism disorders in one of the parents were diagnosed earlier in MODY3 — in 24 years (18,5; 35,3) vs. 32 years (27; 37) in MODY2 (p<0,05), parents were treated with antihyperglycemic drugs — in 94,4% vs. 22,2% respectively (p<0,01).Conclusion. This study is the largest in Russia and estimated that MODY2 is the most prevalence and has had milder presentation and less dysfunction of β-cells to compare to MODY-HNF1α.

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Belousova, E. D., O. S. Groznova e V. Yu Voinova. "Genome-wide sequencing in children with epilepsy and developmental disorders". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, n. 2 (10 maggio 2024): 56–64. http://dx.doi.org/10.21508/1027-4065-2024-69-2-56-64.

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The progress of genetic diagnostic methods and a significant improvement in the quality of next-generation sequencing (NGS) have led to a revolution in the study of the genetics of epilepsy. Genome-wide sequencing (PSG) is the «gold standard» in genetic research in epilepsy.Material and methods. Genome-wide sequencing was performed in 168 probands aged from 1 month to 18 years with a suspected diagnosis of genetic epilepsy. PSG was prescribed to patients who, alongside with epilepsy, had delayed intellectual/speech development and/or motor disorders and behavioral disorders.Results. According to the results of PSG, genetic variants related to the phenotype of the disease were detected in 137 out of 168 (81.5%) children, variations in the number of DNA copies were noted in 14 out of 168 (8.3%) patients. Variants with unclear clinical significance were described in 35 of 137 (25.54%). In the remaining 102 out of 137 (74.45%) patients, the identified causative genetic variants were described as probably pathogenic and pathogenic. Monogenic developmental and epileptic encephalopathies (DEE) were detected in 37/137 or 27% of all patients, while the spectrum of these genetic encephalopathies was extremely wide (from DEE type 1 to DEE type 97). In 52/137 (37.9%) children, the presence of a specific genetic syndrome outside the framework of the DEE, classified in OMIM, was confirmed.Conclusion. The results confirm the high informative value of genome-wide sequencing in a group of children with a combination of epilepsy, intellectual, speech, motor and behavioral disorders. In most cases, the results allow either to prescribe a genotype-oriented symptomatic (less often pathogenetic) treatment, or rationally justify the tactics of further observation and examination, as well as to increase the effectiveness of medical and genetic counseling. The authors express their sincere gratitude to the Charity foundation for medical and social genetic aid projects «Life Genome” for assistance in conducting genome-wide sequencing of most of the described patients.

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Cop, Esra, Pinar Yurtbasi, Ozgur Oner e Kerim Munir. "Genetic testing in children with autism spectrum disorders". Anatolian Journal of Psychiatry 16, n. 6 (2015): 426. http://dx.doi.org/10.5455/apd.1414607917.

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Mokhtar, M. M. "Chromosomal aberrations in children with suspected genetic disorders". Eastern Mediterranean Health Journal 3, n. 1 (15 gennaio 1997): 114–22. http://dx.doi.org/10.26719/1997.3.1.114.

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Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. A total of 53 [38.7%] had an abnormal karyotype:trisomy 21 [36;26.3%], trisomy 18 [3;2.2%], trisomy 13 [1;0.7%], partial autosomal aneuploidy [5;3.6%], pericentric inversion of chromosome 9 [2;1.5%], marker chromosome [2;1.5%] and sex chromosome aberrations [4;2.9%]. All of them showed phenotypic-cytogenetic heterogeneity. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counseling

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Clarke, David. "Handbook of Neurodevelopmental and Genetic Disorders in Children". Journal of Applied Research in Intellectual Disabilities 14, n. 4 (dicembre 2001): 420–21. http://dx.doi.org/10.1111/j.1468-3148.2001.00080.x.

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Goldson, Edward. "Handbook of Neurodevelopmental and Genetic Disorders in Children",. Journal of Developmental & Behavioral Pediatrics 21, n. 4 (agosto 2000): 307–8. http://dx.doi.org/10.1097/00004703-200008000-00013.

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Tully, Elizabeth M. "Handbook of Neurodevelopmental and Genetic Disorders in Children". Journal of the American Academy of Child & Adolescent Psychiatry 39, n. 7 (luglio 2000): 935. http://dx.doi.org/10.1097/00004583-200007000-00026.

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DONNELLY, CRAIG L. "Handbook of Neurodevelopmental and Genetic Disorders in Children". American Journal of Psychiatry 159, n. 6 (giugno 2002): 1070–71. http://dx.doi.org/10.1176/appi.ajp.159.6.1070.

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Rapin, Isabelle. "Handbook of neurodevelopmental and genetic disorders in children". Annals of Neurology 47, n. 3 (marzo 2000): 415. http://dx.doi.org/10.1002/1531-8249(200003)47:3<415::aid-ana29>3.0.co;2-b.

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Maritska, Ziske, Atikah M. Ihsan, Ina Rahmawati, Perawati Perawati, Mohammad Hilal Atthariq Ramadhan, Bintang Arroyantri Prananjaya e Nita Parisa. "Genetic Conditions Associated with Intellectual Disability in Indonesian Population: A Review". Sriwijaya Journal of Medicine 7, n. 1 (10 giugno 2024): 8–15. http://dx.doi.org/10.32539/sjm.v7i1.220.

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Intellectual disability (ID) brings challenges to the affected individuals, their families, and the community at large. It is a multifactorial condition with many contributing factors, namely genetics. This review aims to briefly provide several related genetic conditions for ID in the Indonesian population. Literature studies search relevant articles using PubMed and Google Scholar using the terms ‘intellectual disability’, ‘genetics', ‘Indonesian population’. In Indonesia, the prevalence of children with ID is 1–3%, with 62,011 school-aged children affected with Intellectual Disability. Genetics plays a role in around 25–50% of cases. ID in the Indonesian population is associated with several genetic disorders, namely Duchenne muscular dystrophy (DMD), autism spectrum disorder (ASD), fragile X syndrome (FXS), Down syndrome (DS), Apert syndrome, and subtelomeric chromosomal rearrangements. There is limited research on genetics related to intellectual disability in Indonesia, implying further research is needed.

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Chen, Lei-Shih, Jungkyung Min, Shixi Zhao, Yu-Chen Yeh e Tse-Yang Huang. "Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders". Autism 23, n. 4 (3 agosto 2018): 902–9. http://dx.doi.org/10.1177/1362361318778903.

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We conducted the first needs assessment study by examining the information needs in genetic testing for autism spectrum disorders among parents of children with autism spectrum disorders in Taiwan. Parents of children with autism spectrum disorders in 236 public elementary schools with special education services were invited to complete a survey. About two-thirds of participants (65.7%) had never heard about genetic testing for autism spectrum disorders. Yet, the majority (71.4%) expressed an interest in learning about this testing. The top three topics participants identified to assist them in making informed decisions before undergoing genetic testing (for themselves, their affected children, or other family members) were testing accuracy (79.7%), genetic causes of autism spectrum disorders (79.4%), and the link between testing and treatment (79.4%). A health education brochure (47.2%) was the most desired educational approach. Our results can be utilized to develop information and counseling materials for genetic testing for autism spectrum disorders in Taiwan as well as to address the needs of parents of children with autism spectrum disorders, particularly in informed decisions-making. Moreover, to promote better communication between the providers and parents, when discussing genetic testing for autism spectrum disorders with Taiwanese parents of children with autism spectrum disorders, healthcare professionals’ priorities should be in line with the preferred topics identified in this study.

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Gavryutina, Irina, Lawrence Fordjour e Vivian L. Chin. "Genetics of Thyroid Disorders". Endocrines 3, n. 2 (13 aprile 2022): 198–213. http://dx.doi.org/10.3390/endocrines3020018.

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Thyroid diseases in children and adolescents include acquired or congenital conditions, including genetic disorders either isolated or part of a syndrome. Briefly, we will review the physiology and pathophysiology of the thyroid gland and its disorders. The aim of this chapter is to describe genetic abnormalities of the thyroid gland.

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Waters, A. M., B. P. Bradley e K. Mogg. "Biased attention to threat in paediatric anxiety disorders (generalized anxiety disorder, social phobia, specific phobia, separation anxiety disorder) as a function of ‘distress’versus‘fear’ diagnostic categorization". Psychological Medicine 44, n. 3 (17 aprile 2013): 607–16. http://dx.doi.org/10.1017/s0033291713000779.

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BackgroundStructural models of emotional disorders propose that anxiety disorders can be classified into fear and distress disorders. Sources of evidence for this distinction come from genetic, self-report and neurophysiological data from adults. The present study examined whether this distinction relates to cognitive processes, indexed by attention bias towards threat, which is thought to cause and maintain anxiety disorders.MethodDiagnostic and attention bias data were analysed from 435 children between 5 and 13 years of age; 158 had principal fear disorder (specific phobia, social phobia or separation anxiety disorder), 75 had principal distress disorder (generalized anxiety disorder, GAD) and 202 had no psychiatric disorder. Anxious children were a clinic-based treatment-seeking sample. Attention bias was assessed on a visual-probe task with angry, neutral and happy faces.ResultsCompared to healthy controls, children with principal distress disorder (GAD) showed a significant bias towards threat relative to neutral faces whereas children with principal fear disorder showed an attention bias away from threat relative to neutral faces. Overall, children displayed an attention bias towards happy faces, irrespective of diagnostic group.ConclusionsOur findings support the distinction between fear and distress disorders, and extend empirically derived structural models of emotional disorders to threat processing in childhood, when many anxiety disorders begin and predict lifetime impairment.

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Gorchkhanova, Z. K., E. A. Nikolaeva, S. V. Bochenkov e E. D. Belousova. "Clinical manifestations of Angelman syndrome in children". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 66, n. 6 (19 gennaio 2022): 63–70. http://dx.doi.org/10.21508/1027-4065-2021-66-6-63-70.

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Angelman syndrome is a genetic disorder characterized by mental retardation and severe speech delay, movement disorders and ataxia, dysmorphic features, and behavioral disorders. Angelman syndrome is caused by the loss of the 15q11.2-q13 region of chromosome 15 received from the mother, which leads to a violation of the expression of the UBE3A gene.Purpose. To analyze clinical manifestations in children with Angelman syndrome to identify early-onset and characteristic clinical signs.Characteristics of children and research methods. The study included 60 children. In all cases, Angelman syndrome was diagnosed on the basis of international clinical criteria and the results of genetic testing. The researchers used clinical, functional and molecular genetic research methods.Results. 80-100% of children demonstrated delayed mental and motor development, lack of speech, affective behavior, ataxia, hand stereotypes, apraxia of hand movements, strabismus, sialorrhea. 72% of children had epileptic seizures; all patients (regardless of the presence / absence of epilepsy) had a pattern characteristic of Angelman syndrome on the electroencephalogram. Differential diagnosis was based on the gene / chromosomal syndromes characterized by similar clinical signs.Conclusion. The combination of such most frequent, early clinical symptoms as difficulties in feeding, strabismus, impaired muscle tone, delayed motor and psycho-speech development, affective behavior with frequent laughter, and sleep disorders may indicate Angelman syndrome in a child.

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Lelii, Mara, Elena Baggi, Laura Senatore, Maria Francesca Bedeschi, Robertino Dilena, Maria Iascone, Silvana Gangi, Paola Marchisio e Maria Francesca Patria. "Familial Sleep Disorders in Unknown Genetic Syndrome". Journal of Pediatric Genetics 09, n. 02 (21 ottobre 2019): 132–36. http://dx.doi.org/10.1055/s-0039-1698808.

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AbstractSleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister.

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Lense, Miriam D., Eniko Ladányi, Tal-Chen Rabinowitch, Laurel Trainor e Reyna Gordon. "Rhythm and timing as vulnerabilities in neurodevelopmental disorders". Philosophical Transactions of the Royal Society B: Biological Sciences 376, n. 1835 (23 agosto 2021): 20200327. http://dx.doi.org/10.1098/rstb.2020.0327.

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Millions of children are impacted by neurodevelopmental disorders (NDDs), which unfold early in life, have varying genetic etiologies and can involve a variety of specific or generalized impairments in social, cognitive and motor functioning requiring potentially lifelong specialized supports. While specific disorders vary in their domain of primary deficit (e.g. autism spectrum disorder (social), attention-deficit/hyperactivity disorder (attention), developmental coordination disorder (motor) and developmental language disorder (language)), comorbidities between NDDs are common. Intriguingly, many NDDs are associated with difficulties in skills related to rhythm, timing and synchrony though specific profiles of rhythm/timing impairments vary across disorders. Impairments in rhythm/timing may instantiate vulnerabilities for a variety of NDDs and may contribute to both the primary symptoms of each disorder as well as the high levels of comorbidities across disorders. Drawing upon genetic, neural, behavioural and interpersonal constructs across disorders, we consider how disrupted rhythm and timing skills early in life may contribute to atypical developmental cascades that involve overlapping symptoms within the context of a disorder's primary deficits. Consideration of the developmental context, as well as common and unique aspects of the phenotypes of different NDDs, will inform experimental designs to test this hypothesis including via potential mechanistic intervention approaches. This article is part of the theme issue ‘Synchrony and rhythm interaction: from the brain to behavioural ecology’.

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Guzeva, Valentina I., Yulia A. Eremkina, Oksana V. Guzeva, Viktoriya V. Guzeva, Damir A. Malekov e Viktoriya A. Vedernikova. "Speech disorders in genetically determined forms of epilepsy in children. Clinical observations". Russian Military Medical Academy Reports 42, n. 4 (9 dicembre 2023): 437–44. http://dx.doi.org/10.17816/rmmar585236.

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BACKGROUND: Speech disorders in children are one of the pressing problems of child neurology. In recent years, much attention has been paid to studying the genetic aspects of the development of speech disorders in children with epilepsy. Speech function in childhood is vulnerable, and its violation has a number of significant consequences. Specialists from different disciplines focus on specific aspects of speech disorders. Speech therapists consider speech disorders based on linguistic criteria, psychologists evaluate the psychological characteristics of children with speech disorders. The rapid development of genetic research, the availability of many molecular genetic tests, especially such a method as next generation sequencing, allowed us to pay more attention to the study of genetic aspects of the development of speech disorders in children with epilepsy. AIM: to present options for speech disorders in genetically determined forms of epilepsy in children based on clinical examples. RESULTS: The article analyzes 3 clinical cases of epilepsy in children, combined with speech pathology (2 boys and 1 girl aged 2 to 5 years). The data of anamnesis of life and disease, neurological examination with assessment of speech function, results of genetic research, electroencephalographic examination and magnetic resonance imaging are presented. CONCLUSION: All patients are united by a combination of speech disorders, epileptic seizures, and the presence of genetic pathologies that are responsible for speech function. These clinical observations demonstrate the need for a comprehensive, multidisciplinary approach both at the stage of early diagnosis of speech impairment in children with epileptic seizures and at the stage of further treatment of such patients.

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Sorasio, Lorena, Luisa Franceschi, Lisa Pavinato e Antonella Peduto. "Quando il disturbo del neurosviluppo ha un substrato genetico: un caso di sindrome di Kleefstra". Medico e Bambino pagine elettroniche 24, n. 4 (30 aprile 2021): 114–17. http://dx.doi.org/10.53126/mebxxiv114.

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Neurodevelopmental disorders (ND) have an important prevalence in children; intellectual disability in particular occurs in a heterogeneous group of genetic conditions. The evolution of molecular cytogenetic techniques and the recent advances in exome sequencing technologies have enormously implemented the possibilities of diagnostic classification in children with cognitive disabilities due to genetics. The paper presents the case of a patient with a neurodevelopmental disorder who was diagnosed with Kleefstra (KS) syndrome, caused by a point mutation de novo of EHMT1 gene.

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BOLTON, DEREK, THALIA C. ELEY, THOMAS G. O'CONNOR, SEAN PERRIN, SOPHIA RABE-HESKETH, FRÜHLING RIJSDIJK e PATRICK SMITH. "Prevalence and genetic and environmental influences on anxiety disorders in 6-year-old twins". Psychological Medicine 36, n. 3 (17 novembre 2005): 335–44. http://dx.doi.org/10.1017/s0033291705006537.

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Background. Prevalence of childhood anxiety disorders at specific ages and genetic etiological influences on anxiety disorders in young children have been little studied. The present study reports prevalence estimates in a community sample of 6-year-old twins, and patterns of genetic and environmental influences on these early-onset anxiety disorders.Method. Using a two-phase design 4662 twin-pairs were sampled and 854 pairs were assessed in the second phase by maternal-informant diagnostic interview using DSM-IV criteria.Results. The most common conditions were separation anxiety disorder (SAD) [2·8%, 95% confidence interval (CI) 2·1–3·8, for current disorder] and specific phobia (10·8%, 95% CI 8·4–13·6, for current disorder). Behavioral genetic modeling was feasible for these two conditions, applied to two phenotypes: symptom syndrome (regardless of impairment) and the narrower one of diagnostic status (symptom syndrome with associated impairment). The heritability estimate for SAD diagnostic status was high, 73%, with remaining variance attributed to non-shared environment. The heritability estimates for specific phobia were also high, 80% for the symptom syndrome and 60% for diagnostic status, with remaining variance attributed in both cases to non-shared environment.Conclusions. Compared with previous epidemiological surveys of children and adolescents in wide age-bands, the current estimates suggest that rates of anxiety disorders assessed in young childhood are generally at least as high and perhaps higher compared with those found in older children. The heritability estimates suggest that the genetic effects on these early-onset anxiety disorders are substantial and more significant than environmental effects, whether shared or non-shared.

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Biesecker, Leslie G. "Clinical Commentary: The Law of Unintended Ethics". Journal of Law, Medicine & Ethics 25, n. 1 (1997): 16–18. http://dx.doi.org/10.1111/j.1748-720x.1997.tb01390.x.

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The law of unintended consequences is generally applied to technological advances that solve one problem but cause another. In this view, the problem created may be worse than that which was solved, hence the law is used as an argument against technological advances. Concern about intent and consequence comes to mind when reading the article by Ronald Green on parental decision making and prenatal genetics. Green's analysis, combined with the realities of genetic practice, raises questions about parental power, eugenics, and the interests of children affected by genetic or congenital disorders. Green proposes rules and draws conclusions that are not useful for clinicians and that promise harm to families and individuals affected by genetic disorders. Green's analysis may be an example of a corollary that could be viewed as the Law of Unintended Ethics.Green's paper begins with an apparently contradictory dual thesis. First, he supports unfettered parental decision making about their fetuses and children. Second, he suggests that we should strive to give our children lives unimpaired by serious genetic (or congenital) disorders.

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Banu, Meraj, Akbar Ali Khan Pathan e K. V. Chaitanya. "Diagnostics for Genetically Inherited Disorders: From Cytogenetics to Genomics Technologies- A Review". Biomedical and Pharmacology Journal 16, n. 2 (30 giugno 2023): 639–51. http://dx.doi.org/10.13005/bpj/2646.

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The frequent occurrence of chromosomal abnormalities in humans is one of the main factors responsible for the birth of children with disabilities. More than 7.6 million infants per year are diagnosed with severe genetic abnormalities. An increase in genetic abnormalities among children may be attributed to women suffering from hormonal disorders. Genetic malformations can either be hereditary or spontaneous due to the exposure of germinal cells to toxins and mutagens or even oxidative stress. Most genetic disorders lack proper treatment. However, proper counseling, therapy, and medication can minimize its impact. Early diagnosis of abnormalities in the fetus will benefit the parents in options assessment. Fetal chromosomal analysis is the best option for an appropriate genetic disorder diagnosis. The latest and emerging technologies involved in detecting chromosomal abnormalities at the prenatal stage are discussed in this review. Significant developments in prenatal diagnostics and the best globally available economical options were also discussed.

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Folstein, Susan E., e Joseph Piven. "Etiology of Autism: Genetic Influences". Pediatrics 87, n. 5 (1 maggio 1991): 767–73. http://dx.doi.org/10.1542/peds.87.5.767.

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Infantile autism was first described by Kanner in 1943.1 Based on the observation that symptoms often began shortly after birth and always by two or three years of age, Kanner believed that autism was caused by an unknown, inborn defect. Because this syndrome was so severe and peculiar, it seemed unlikely to be an understandable outcome of a child's life experiences. In the years since Kanner first described this disorder, research findings have supported his initial interpretations. It is now generally accepted that autism has a biologic cause, and considerable research has been carried out with the aim of uncovering its nature. Both hereditary factors and the prenatal and perinatal environment have been considered. This paper will review the role of genetic factors in the cause of autism; the role of the prenatal and perinatal environment is considered in the paper by Nelson.51 Three types of genetic associations have been described: (1) the familial aggregation of autism, per se—autism is more common in the sibs of affected children; (2) the familial aggregation of other disorders in the family members of autistic children—a variety of disorders that are mild, but probably conceptually related, have recently been described in relatives; and (3) autism appears in association with a few particular disorders of known genetic etiology. FAMILIAL AGGREGATION OF AUTISM Population and Family Studies In most case series and a few population-based studies, the prevalence of autism in the siblings of autistic children has been estimated to be about 2% to 3%.2,3 While this number is small, it is 50 to 100 times greater than the expected rate of autism of 4 to 5 per 10 000 in the population.4,5

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Volgina, S. Ya, A. R. Ahmetova, L. K. Shaidukova, N. V. Zhurkova e G. A. Kulakova. "The role of risk factors in the development of speech and language disorders in preschool children". Kazan medical journal 102, n. 4 (8 agosto 2021): 537–44. http://dx.doi.org/10.17816/kmj2021-537.

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The article provides an overview of modern literature on the risk factors for the development of speech and language, which can be taken into account by pediatricians when forming a high-risk group of the corresponding contingent of preschool children. The leading risk factor for the development of speech/language disorders in children is childhood developmental brain disorders that arose in the prenatal, intrapartum and postnatal period of a child's life, which is often found in children with cerebral palsy, epilepsy, and after head injuries. The occurrence of disorders is greatly influenced by anatomical defects in the speech apparatus, requiring timely surgical correction, and hearing loss. Impairment or absence of speech/language in children is common causes for visiting a psychiatrist, which is observed in autistic spectrum disorders (including autism), elective mutism, mental retardation, attention deficit hyperactivity disorder. Many genetic factors which are often found in patients with other hereditary diseases (chromosome disorders, monogenic hereditary diseases, inherited metabolic diseases, genetic speech disorders) play a special role in the development of speech/language and are associated with developmental disorders, intellectual disability and behavioral deviations. Finally, social factors such as socioeconomic status and social structure of the family, family conflict, pedagogical neglect, child abuse and prolonged use of modern digital devices throughout the day contribute to speech/language development disorders in preschool children. Analysis of the causes of speech/language pathology is of great practical importance for improving the management strategy aimed at preventing the manifestation of the disorders in children.

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Erbeli, Florina, Marianne Rice e Silvia Paracchini. "Insights into Dyslexia Genetics Research from the Last Two Decades". Brain Sciences 12, n. 1 (26 dicembre 2021): 27. http://dx.doi.org/10.3390/brainsci12010027.

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Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

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Kalibataitė, Irma, Vilius Rutkauskas, Eglė Preikšaitienė e Vaidutis Kučinskas. "Establishing genetic diagnosis of intellectual disability in children: diagnostic yield of various genetic approaches". Acta medica Lituanica 19, n. 4 (31 gennaio 2013): 409–15. http://dx.doi.org/10.6001/actamedica.v19i4.2550.

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Background. The aim of our investigation was to examine aetiology of intellectual disability / developmental delay (ID / DD) in children referred to the Centre for Medical Genetics at the Vilnius University Hospital Santariskiu Clinics during 2009 and to evaluate the diagnostic yield of current genetic approaches. Materials and methods. In a retrospective investigation, medical records of 217 patients younger than 18 years of age were reviewed with a focus on the family history and pedigree, personal history, physical examination, imaging and laboratory diagnostics. Patients with established genetic diagnosis were compared with cases without identified disorders. Aetiological structure of all cases was explored, as well as factors influencing the diagnosis of genetic predisposition and the yielding of the genetic methods for investigation of patients with ID or DD available in 2009. Results. Genetic diagnosis was established for 88 (40.5%) patients. The diagnostic yielding of conventional karyotyping was 18%, molecular karyotyping 12.4%, metabolic testing 4.1%, FISH 2.3%, molecular genetics 0.9%, in 2.8% of patients the fetal alcohol syndrome was diagnosed. Conclusions. Currently the most effective are conventional karyotyping and molecular karyotyping techniques, showing that chromosomal alterations are the most common cause of ID / DD. Mostly the diagnosis is established in severe cases of ID / DD with congenital anomalies and dysmorphic features. Metabolic testing is especially effective if suggestive clinical features of metabolic disorders are present. The low yielding of molecular genetics methods indicates the need of their integration into diagnostics of ID / DD in Lithuania.

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Glotov, O. S., A. N. Chernov, P. A. Suchko, Yu A. Eismont e L. A. Mayorova. "Formation of cognitive processes in children with autism. Part I. Epigenetic mechanisms". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, n. 1 (7 marzo 2024): 34–44. http://dx.doi.org/10.21508/1027-4065-2024-69-1-34-44.

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Autism and autism spectrum disorders are neuropsychiatric diseases that begin to appear in children under 3 years. Over the past decade, the number of children with autism spectrum disorders has increased more than in 10-fold and continues to grow, accounting for 1–2 % of the world’s population. Currently, the diagnosis of autism spectrum disorders is based only on clinical and behavioral tests, and there are no biological and genetic markers that could contribute to the early detection of this disorder. The review, based on the analysis of modern literature data about epigenetic mechanisms which associated with autism, examines the influence of the DNA methylation profile in the formation of cognitive impairment and the possibility of using genes and their methylation status as diagnostic biomarkers in children with autism spectrum disorders. Literature data analysis shows that disorders of attention, speed of information processing, working memory, learning are based on genetic and epigenetic (methylation) changes in the expression of many genes: BDNF, CAPS2, CNTNAP2, GABRB3, FMR1, FOXP1, GTF2I, HSD11B2, MECP2, NF2, NGF, NR3C1, OXTR, PAK2, RELN, SLC6A4, UBE3A, etc. Most of these genes undergo hypermethylation, reducing the expression of its proteins, which impairs the development and formation of the nervous system in autism. In contrast, other genes are associated with methylation and oxidative stress are hypomethylated in autism spectrum disorders. Assessing the expression levels and methylation status of these genes can serve as genetic and epigenetic biomarkers for the differentiation and diagnosis of clinical symptoms, autism spectrum disorders severity, and facilitate the development of new treatments and rehabilitation procedures.

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Snetkov, A. I. "Diagnosis of genetic forms of rickets in children". N.N. Priorov Journal of Traumatology and Orthopedics 1, n. 3 (15 settembre 1994): 30–33. http://dx.doi.org/10.17816/vto105072.

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Results of examinations of 121 children with genetic forms of rickets were used to develop criteria for the diagnosis and differential diagnosis of vitamin D-resistant and vitamin D-dependent rickets, renal tubilar acidosis, and de ToniDebreFanconi's disease. The severity of genetic forms of rickets was found related to manifestation of metabolic disorders. 'Triggering mechanisms of mineral metabolism disorders in a child's body were revealed, which were related to abnonnal vitamin D metabolism in cases with vitamin D-resistant and negatice rickets and to genetic defects of the proximal and distal renal canaliculi. Roentgenography of skeletal bones helped detect a number of important symptoms characteristic of osteomalacia, osteoporosis, osteosclerosis, and combinations thereof. Roentgenography of the hand with magnification x34 demonstrated a high informative value of the method and confirmed the similarity of structural disorders in the bones of the hand and other skeletal zones.

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Mountford, Hayley S., e Dianne F. Newbury. "The genomic landscape of language: Insights into evolution". Journal of Language Evolution 3, n. 1 (8 dicembre 2017): 49–58. http://dx.doi.org/10.1093/jole/lzx019.

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Abstract Studies of severe, monogenic forms of language disorders have revealed important insights into the mechanisms that underpin language development and evolution. It is clear that monogenic mutations in genes such as FOXP2 and CNTNAP2 only account for a small proportion of language disorders seen in children, and the genetic basis of language in modern humans is highly complex and poorly understood. In this review, we examine why we understand so little of the genetic landscape of language disorders, and how the genetic background of an individual greatly affects the way in which a genetic change is expressed. We discuss how the underlying genetics of language disorders has informed our understanding of language evolution, and how recent advances may obtain a clearer picture of language capacity in ancient hominins.

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Neumann, Alexander, Ilja M. Nolte, Irene Pappa, Tarunveer S. Ahluwalia, Erik Pettersson, Alina Rodriguez, Andrew Whitehouse et al. "A genome-wide association study of total child psychiatric problems scores". PLOS ONE 17, n. 8 (22 agosto 2022): e0273116. http://dx.doi.org/10.1371/journal.pone.0273116.

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Substantial genetic correlations have been reported across psychiatric disorders and numerous cross-disorder genetic variants have been detected. To identify the genetic variants underlying general psychopathology in childhood, we performed a genome-wide association study using a total psychiatric problem score. We analyzed 6,844,199 common SNPs in 38,418 school-aged children from 20 population-based cohorts participating in the EAGLE consortium. The SNP heritability of total psychiatric problems was 5.4% (SE = 0.01) and two loci reached genome-wide significance: rs10767094 and rs202005905. We also observed an association of SBF2, a gene associated with neuroticism in previous GWAS, with total psychiatric problems. The genetic effects underlying the total score were shared with common psychiatric disorders only (attention-deficit/hyperactivity disorder, anxiety, depression, insomnia) (rG > 0.49), but not with autism or the less common adult disorders (schizophrenia, bipolar disorder, or eating disorders) (rG < 0.01). Importantly, the total psychiatric problem score also showed at least a moderate genetic correlation with intelligence, educational attainment, wellbeing, smoking, and body fat (rG > 0.29). The results suggest that many common genetic variants are associated with childhood psychiatric symptoms and related phenotypes in general instead of with specific symptoms. Further research is needed to establish causality and pleiotropic mechanisms between related traits.

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Rogers, Maureen. "Nail manifestations of some important genetic disorders in children". Dermatologic Therapy 15, n. 2 (giugno 2002): 111–20. http://dx.doi.org/10.1046/j.1529-8019.2002.01515.x.

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Karmiloff-Smith, A., D. D'Souza, T. M. Dekker, J. Van Herwegen, F. Xu, M. Rodic e D. Ansari. "Genetic and environmental vulnerabilities in children with neurodevelopmental disorders". Proceedings of the National Academy of Sciences 109, Supplement_2 (8 ottobre 2012): 17261–65. http://dx.doi.org/10.1073/pnas.1121087109.

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Andersson, Nadine G., Maria Rossing, Marcus Fager Ferrari, Migle Gabrielaite, Eva Leinøe, Rolf Ljung, Annika Mårtensson, Eva Norström e Eva Zetterberg. "Genetic screening of children with suspected inherited bleeding disorders". Haemophilia 26, n. 2 (marzo 2020): 314–24. http://dx.doi.org/10.1111/hae.13948.

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Hildebrand, Michael S., Victoria E. Jackson, Thomas S. Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O. Braden, Samantha Turner et al. "Severe childhood speech disorder". Neurology 94, n. 20 (28 aprile 2020): e2148-e2167. http://dx.doi.org/10.1212/wnl.0000000000009441.

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ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS).MethodsPrecise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment analyses were conducted on high-confidence gene candidates.ResultsThirty-four probands ascertained for CAS were studied. In 11/34 (32%) probands, we identified highly plausible pathogenic single nucleotide (n = 10; CDK13, EBF3, GNAO1, GNB1, DDX3X, MEIS2, POGZ, SETBP1, UPF2, ZNF142) or copy number (n = 1; 5q14.3q21.1 locus) variants in novel genes or loci for CAS. Testing of parental DNA was available for 9 probands and confirmed that the variants had arisen de novo. Eight genes encode proteins critical for regulation of gene transcription, and analyses of transcriptomic data found CAS-implicated genes were highly coexpressed in the developing human brain.ConclusionWe identify the likely genetic etiology in 11 patients with CAS and implicate 9 genes for the first time. We find that CAS is often a sporadic monogenic disorder, and highly genetically heterogeneous. Highly penetrant variants implicate shared pathways in broad transcriptional regulation, highlighting the key role of transcriptional regulation in normal speech development. CAS is a distinctive, socially debilitating clinical disorder, and understanding its molecular basis is the first step towards identifying precision medicine approaches.

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