Relevant bibliographies by topics / Speech disorders in children – patients and family relationships

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Speech disorders in children – patients and family relationships'

Author: Grafiati
Published: 29 July 2024
Last updated: 31 July 2024

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Speech disorders in children – patients and family relationships.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Journal articles on the topic "Speech disorders in children – patients and family relationships"

1

Calcaterra, Valeria, Laura Schneider, Stefano Baresi, Francesca Bodini, Federica Bona, Claudia Chillemi, Annalisa De Silvestri, Sara Zanelli, and Gianvincenzo Zuccotti. "Specific Learning Disorders in Children and Adolescents with Obesity." Children 10, no. 10 (September 24, 2023): 1595. http://dx.doi.org/10.3390/children10101595.

Full text
Abstract:
Specific learning disorders (SLDs) are the most frequently diagnosed developmental disorders in childhood. Different neurocognitive patterns have been found in patients with overweight and obesity, but no data on childhood obesity and SLDs have been reported. To increase our understanding of the relationship between neuropsychological developmental and obesity, we assessed the prevalence of SLD in a pediatric population with obesity. We retrospectively included 380 children and adolescents with obesity. For all participants, auxological, metabolic, demographic features, relationship and social skills, anamnestic data on pregnancy and the perinatal period, stages of development and family medical history were reviewed. SLD was defined according to the DSM-5 criteria. A group of 101 controls of normal weight was included. The overall prevalence of SLD was 10.8%, and SLD was more prevalent in patients with obesity (p < 0.001), with male predominance (p = 0.01). SGA was associated with SLD (p = 0.02). Speech retardation (p < 0.001), limited relationships with peers (p < 0.001) and didactic support (p < 0.001) were noted in the SLD group compared to the group without SLD. A higher prevalence of family history of neuropsychiatric disorders was observed in the SLD group (p = 0.04). A higher fasting glucose level was detected in patients with obesity and SLD compared to subjects without SLD (p = 0.01). An association between obesity and SLD could not be excluded, and an overlap of pathogenic factors for both conditions should be considered.
APA, Harvard, Vancouver, ISO, and other styles
2

Baccouche, K., A. Walha, I. Hadjkacem, W. Kammoun, I. Hariz, H. Ayadi, Y. Moalla, and F. Ghribi. "Social and family characteristics of children with stuttering in Tunisia." European Psychiatry 41, S1 (April 2017): S444. http://dx.doi.org/10.1016/j.eurpsy.2017.01.456.

Full text
Abstract:
IntroductionStuttering constitutes for children a psychological and social disability, in which the environmental context plays an important role in the installation, stabilization and aggravation or attenuation.ObjectiveOur study aims to describe the socio-familial characteristics of children with stuttering.Patients and methodsThis is a descriptive and analytical-retrospective study carried out on 80 children with stuttering and had been followed-up in the child psychiatry department of UMC Hédi Chaker Sfax (Tunisia) for more than 3 years (January 2012 to 31 December 2013).ResultsIn our study, the prevalence of stuttering in child psychiatry consultation department of Sfax is 4%. Most of the patients were either the youngest (36.25% of cases) or seniors (35% of cases).Personal history of speech disorder had been reported in 8 children (10% of cases). Family history of speech disorder was reported in 33.75% of cases. These disorders had been kind of stuttering in 60.66% of cases, speech delay in 18.52% of cases and sound speech disorder in 7.41% of cases.The parent–child relationship is marked by a parental rigidity in 18.6% of cases. The existence of triggering factor was noted in 37.5% of cases: traumatic situation (30% of cases), the birth of a younger sibling (22% case).ConclusionThe emergence and evolution of stuttering depend on predisposing, precipitating and chronicisants factors. Identifying these factors and adopting a favorable parental attitude contribute to the fight against stuttering in children and, at least, avoid aggravation and chronicity of this disorder.Disclosure of interestThe authors have not supplied their declaration of competing interest.
APA, Harvard, Vancouver, ISO, and other styles
3

Levitina, E. V., M. U. Kolchanova, O. A. Rakhmanina, and E. B. Hramova. "Structure of comorbide disorders in ticose hyperkinesis in children." Medical Science And Education Of Ural 21, no. 4 (December 30, 2020): 72–74. http://dx.doi.org/10.36361/1814-8999-2020-21-4-72-74.

Full text
Abstract:
Purpose. To study the structure of comorbid disorders in children with tycotic hyperkinesis of the city of Tyumen. Materials and methods. We examined 103 children aged 5 to 14 years. Patients were divided into 2 groups: group 1 – local tics (n = 43), group 2 – common tics (n = 60). All patients received anticitotic therapy. Using various scales and questionnaires, an assessment of tic hyperkinesis, the level of anxiety, a study of the rational, emotional and behavioral components of the relationship between parents and a child, an investigation of the emotional sphere, and neuropsychological testing were carried out. Results. Manifestations of ticks contribute to various stressful situations, school adaptation stress. The tics are intensified by emotional overstrain, mental overwork, eye strain. A risk factor for the formation of tic hyperkinesis is family education by the type of symbiosis and hypersocialization. Comorbid disorders in patients with ticose hyperkinesis in most cases are represented by ADHD, anxiety, the prevalence of a combination of stress with pathological compensation, and the presence of a headache. The neuropsychological plan revealed impaired attention, auditory-speech and visual memory, and writing. Conclusion. Identified comorbid disorders in children with tic hyperkinesis significantly reduce the quality of life of patients, disrupts their social adaptation and require timely correction.
APA, Harvard, Vancouver, ISO, and other styles
4

Perunova, N. Yu, M. Yu Bobylova, and T. M. Prygunova. "Clinical and electroencephalographic characteristics of neurodegeneration with brain iron accumulation type 5 in children on the example of 5 cases." Russian Journal of Child Neurology 15, no. 1 (May 19, 2020): 47–61. http://dx.doi.org/10.17650/2073-8803-2020-15-1-47-61.

Full text
Abstract:
Neurodegenerative disease with brain iron accumulation type 5 (OMIM: 300894) manifests itself with early-onset epilepsy, mental retardation with stereotypies that resemble Rett syndrome, and motor disorders under the mask of cerebral palsy in childhood; since adolescence, patients usually have aggravation of parkinsonism and develop complications, such as torsion dystonia. We analyzed medical records of 5 female patients aged between 2.5 and 6 years. There were no family relationships between patients’ families. All children had problems with their motor skills: 4 out of 5 patients could only crawl; none of them could walk independently. We also observed severe speech disorders in these patients: they had no expressive speech along with reduced understanding of speech. Their behavior was characterized by contact disorders and multiple stereotypies. All children had no self-service skills. The assessment of neurological status demonstrated uniform symmetrical paresis (score 3–4; 100 % of cases), increased muscle tone of the extrapyramidal type (40 % of cases), and diffuse muscle hypotension with ataxia (40 % of cases). One patient (with autistic-like behavior) had no motor disorders. Magnetic resonance imaging showed non-specific changes in 100 % of cases (diffuse cortical / subcortical atrophy, secondary hydrocephalus ex vacuo). One patient was found to have hypointense signal in the substantia nigra and globus pallidus on follow-up T2‑weighted magnetic resonance images obtained at the age of 6 years. All patients presented with epilepsy: West syndrome (n = 1), Lennox–Gastaut syndrome (n = 1), focal epilepsy with asymmetric tonic seizures (n = 1), and focal epilepsy with febrile generalized tonic-clonic seizures (n = 2). Remission for more than 1 year was achieved in 4 out of 5 patients. The following electroencephalographic patterns were identified before treatment initiation: hypsarrhythmia with transformation into epilepsy with a pattern of continued spike-and-wave activity during sleep (n = 1), multi-regional epileptiform activity with a tendency to diffuse spread and predominance in the frontal region (n = 3), and regional epileptiform activity in the frontocentral area (n = 1). The initial therapy with first-line drugs was highly effective and ensured remission in 3 patients; one patient had remission in response to hormone therapy; one patient continued to have seizures despite polytherapy with antiepileptic drugs. Interictal epileptiform activity was completely blocked by treatment in 2 cases; the rest of the patients had transformation of epilepsy into benign epileptiform discharges of childhood (n = 3).
APA, Harvard, Vancouver, ISO, and other styles
5

Oksana, Voitovych, Kozliuk Olha, Kosarieva Oksana, Marchuk Galyna, and Stepanova Olga. "Humanistic approach towards education of preschool children with developmental speech and language disorders." Revista Tempos e Espaços em Educação 13, no. 32 (December 13, 2020): 1–15. http://dx.doi.org/10.20952/revtee.v13i32.14958.

Full text
Abstract:
Changing approaches towards education of preschool children with developmental speech and language disorders occurs due to systemic pressure from government policy, which includes the development of inclusive education, the promotion of multidisciplinary cooperation in the development of policies and educational practices. Differentiation, personalization and integration of children with special educational needs are trends that indicate the humanization of education. Based on the analysis of scientific publications on the issues of therapy (treatment) and education of preschool children with developmental speech and language disorders for 2000-2019, key trends in education have been identified. The academic paper summarizes the experience of involving parents in the treatment of children. The importance of increasing parents’ awareness concerning the peculiarities of children with developmental speech and language disorders has been identified. The effectiveness of family-centered practice in education compared to usual practice has been proven. It has been determined that the humanistic approach should include the principle of involvement of all subjects of education of children with developmental speech and language disorders. Family-centered practice is a form of humanistic approach to education, where there is a division of responsibilities and reducing the burden on preschool teachers in the upbringing and education of such children. The features of a humanistic approach to education determine the individual approach to therapy and education. This approach is complemented by differentiated and personalized approaches. It has been determined that home speech sound disorder treatment is effective due to the formation of the natural environment, which contributes to the formation of positive relationships between children developmental speech and language disorders and parents.
APA, Harvard, Vancouver, ISO, and other styles
6

Wadsworth, Steven, Christine Maui, and Erin Stevens. "The prevalence of orofacial myofunctional disorders among children identified with speech and language disorders in grades kindergarten through six." International Journal of Orofacial Myology 24, no. 1 (November 1, 1998): 1–19. http://dx.doi.org/10.52010/ijom.1998.24.1.1.

Full text
Abstract:
The incidence of orofacial myofunctional disorders (OMD) has been investigated in several populations, including the general population, orthodontic patients, preschool children, and elementary school children. However, there has not been a systematic study of the prevalence of OMO among school children receiving speech and language services through the public schools. The American Speech-Language-Hearing Association (ASHA) has recognized a need for basic descriptive research regarding the various components of OMO and the interaction of those components with each other and with speech and language disorders. Therefore, the present study was designed to: 1) provide data regarding the incidence rates of OMO among children identified with speech and language disorders in grades kindergarten through six, and 2) investigate possible correlational relationships between the presence of various components of OMO with each other and with the presence of speech and/or language disorders. Two hundred children in grades kindergarten through six from various school districts in Fresno County, California were tested for the presence of various OMO components through examination of the orofacial complex. The resulting data was subjected to statistical analysis to determine the percentages of occurrence, and the possible relationships among various OMO variables were explored through cross tabulations and the Pearson Chi-square formula.
APA, Harvard, Vancouver, ISO, and other styles
7

Potylicina, V., and V. Lyubicheva. "Peculiarities of Relationships in a Family with a Preschool Child with General Speech Underdevelopment." Scientific Research and Development. Socio-Humanitarian Research and Technology 12, no. 4 (January 11, 2024): 77–84. http://dx.doi.org/10.12737/2306-1731-2024-12-4-77-84.

Full text
Abstract:
The article is devoted to the problem of relationships in families raising children with speech disorders. It presents the results of an empirical study of the peculiarities of the parenting style in the family, the attitude of parents towards a child with speech impairments, as well as the attitude of the child towards adults in the family. The drawings of parents and children are examined and compared, and a description of each detail in the drawing is given. The results of the child's choice are analyzed when comparing the color and order of the card with the parent. Based on the experiment, conclusions and a way to solve this problem were reflected.
APA, Harvard, Vancouver, ISO, and other styles
8

Horopakha, Nataliia, Olha Shadiuk, Nadiia Frolenkova, Olena Sotska, and Anzhela Proseniuk. "Cooperation with Parents on Environmental Education of Preschool Children with Speech Disorders." Journal of Intellectual Disability - Diagnosis and Treatment 9, no. 5 (October 20, 2021): 451–58. http://dx.doi.org/10.6000/2292-2598.2021.09.05.4.

Full text
Abstract:
This article presents a comprehensive pedagogical technology for correctional and developmental work with parents and their preschool children with speech disorders. The purpose of this article is also to consider the change in parents' attitude to the environmental education of a child with speech disorders. The project is designed to involve parents and increase their interest in the environmental education of preschoolers with speech disorders. It is investigated to what extent the involvement of parents and teachers in joint research projects increases competencies in terms of knowledge, abilities, and attitudes to educational processes. The article uses several methods of synthesis and analysis in research. The descriptive method and the experimental method were also used. The hypothesis is that using a comprehensive program involving parents for research and experimental activities in environmental education of preschool children with speech disorders promotes the more successful acquisition of knowledge about nature, improves therapy, and strengthens family relationships. In technology, attention is paid to the actual educational activities and the reflection of teachers' and parents' internal structures of competencies. The presented technology systematizes the instrumental-methodical, expressive (behavioral) aspects of teaching and raising a child with speech disorders and provides a universal basis for any intervention program to change attitudes and involve parents in educational work.
APA, Harvard, Vancouver, ISO, and other styles
9

Volgina, S. Ya, A. R. Ahmetova, L. K. Shaidukova, N. V. Zhurkova, and G. A. Kulakova. "The role of risk factors in the development of speech and language disorders in preschool children." Kazan medical journal 102, no. 4 (August 8, 2021): 537–44. http://dx.doi.org/10.17816/kmj2021-537.

Full text
Abstract:
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.
APA, Harvard, Vancouver, ISO, and other styles
10

Galiullina, L. K., and D. M. Mendelevich. "Mental disorders with voice disorders." Neurology Bulletin XXXIV, no. 1-2 (April 15, 2002): 80–81. http://dx.doi.org/10.17816/nb87575.

Full text
Abstract:
The first mention of the relationship of voice disorders with the mental state of a person was made back in 1890 by F.E. Ingals, who viewed aphonia as a form of hysteria. R. Jane in 1920. in his work "The main symptoms of hysteria" he considered "sudden paralysis or loss of voice" as one of the "salutary ways out of the situation", when patients can show "a perverse attitude towards reality through the demonstration of their incapacity." D.K. Wilson (1990) notes the influence of a person's mental state on such parameters of a voice as loudness, pitch, pitch variation and voice quality. Curtis (1967) considered one of the causes of voice disorders in children to be poor adaptability to the environment and poor relationships between parents and children, lack of mutual understanding in interpersonal contacts. According to Andrews (1988), when testing patients with vocal disorders, a significant increase in the so-called cases of "conflict in expressing one's feelings through speech" was found.
APA, Harvard, Vancouver, ISO, and other styles
More sources

Dissertations / Theses on the topic "Speech disorders in children – patients and family relationships"

1

余文蕙 and Man Wai Philippa Yu. "Stress and coping in parents of daughters with eating disorders: an evaluation of a coping-focusedintervention group." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41715986.

Full text
APA, Harvard, Vancouver, ISO, and other styles
2

Pradhuman, Rheola Gillian. "Childhood leukaemia : family patterns over time." Diss., 2000.

Find full text
Abstract:
An overview of the existing body of knowledge on the most widely researched areas of childhood leukaemia was presented and it was argued that a conceptual shift is required to achieve a more comprehensive understanding of the problem. This conceptual shift encompassed an ecosystemic approach. This study was conducted within a holistic systemic epistemology. A qualitative approach employing a case study method to provide rich descriptions of the context in which two leukaemia sufferer's symptoms were embedded.
Psychology
M.A. (Psyhcoloy)
APA, Harvard, Vancouver, ISO, and other styles
3

Davis, Kim Suzanne 1979. "The influence of genetic disorders on parenting stress and family environment." Thesis, 2007. http://hdl.handle.net/2152/3224.

Full text
Abstract:
18q- is a chromosomal deletion disorder caused by missing genetic material from the long arm of the 18th chromosome. The extensive impairments associated with 18qmay be a significant source of stress to parents. Research on families of handicapped children suggests that these families experience additional stress related to challenges such as increased caregiving demands, changes in social support systems, and financial burdens related to medical needs and decreased income. Changes in the family environment are also implicated in families coping with a disabled child. Some studies reveal highly cohesive environments within these families, while others reveal decreased levels of expressiveness and cohesion and increases in conflict. The present study compared variables of parenting stress and family environment in families of children with and without disabilities. Group 1 consisted of 24 primary caregivers of children with 18q-. Group 2 consisted of 32 primary caregivers of children with DS. Group 3 consisted of 32 primary caregivers of typically developing children. A one-way, between groups multivariate analysis of variance (MANOVA) was conducted to investigate differences in parenting stress on three subscales of the Parenting Stress Index. A significant difference between groups was found. Post hoc pairwise comparisons indicated that the DS group reported statistically significantly more stress than the Control group on both the Isolation and Spouse subscales. The 18q- group was not found to be statistically significantly different from either the Control or DS group on any of the three PSI subscales. A one-way, between groups multivariate analysis of variance (MANOVA) was also conducted to investigate differences in family environment on three subscales of the Family Environment Scale. A significant difference between groups was found. Post hoc pairwise comparisons indicated that the DS group showed statistically significantly less amounts of cohesion in the family environment than both the 18q- and Control groups. The 18q- group showed similar levels of cohesion to the Control group. There were no significant differences between groups on the other two FES subscales. Findings from the study provide important information about the role of family environment and parenting stress in families of children with disabilities. Limitations of the study and implications for future research and practice are discussed.
text
APA, Harvard, Vancouver, ISO, and other styles

Books on the topic "Speech disorders in children – patients and family relationships"

1

Watts, Pappas Nicole, and McLeod Sharynne, eds. Working with families in speech-language pathology. San Diego: Plural Pub., 2008.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
2

Feit, Debbie. The Parent's Guide to Speech and Language Problems. New York: McGraw-Hill, 2007.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
3

Feit, Debbie. The parent's guide to speech and language problems. New York: McGraw-Hill, 2007.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
4

Donahue-Kilburg, Gail. Family-centered early intervention for communication disorders: Prevention and treatment. Austin, Tx: Pro-Ed, 2004.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
5

Valette, Brett. A parent's guide to eating disorders: Prevention and treatment of anorexia nervosa and bulimia. New York, NY: Avon Books, 1990.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
6

Valette, Brett. A parent's guide to eating disorders: Prevention and treatment of anorexia nervosa and bulimia. New York: Walker Pub. Co., 1988.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
7

Valette, Brett. A parent's guide to eating disorders: Prevention and treatment of anorexia nervosa and bulimia. New York, NY: Avon Books, 1990.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
8

Busch, Susan Ellison. Yearning for normal: Learning acceptance. Peninsula, OH: Gray Horse Press, 2015.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
9

H, Morgan Stephen, ed. Living with autistic spectrum disorders: Guidance for parents, carers, and siblings. London: Paul Chapman Pub., 2007.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
10

Herrin, Marcia. The parent's guide to eating disorders: Supporting self-esteem, healthy eating, and positive body image at home. 2nd ed. Carlsbad, CA: Gürze Books, 2007.

Find full text
APA, Harvard, Vancouver, ISO, and other styles
More sources

Book chapters on the topic "Speech disorders in children – patients and family relationships"

1

Bower, Kimberly A., Julie Good, Anke Reineke, Cristina Gordon, and Michele R. Burdette-Taylor. "Dermatologic Conditions and Symptom Control." In Interdisciplinary Pediatric Palliative Care, edited by Joanne Wolfe, Pamela S. Hinds, and Barbara M. Sourkes, 379–406. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190090012.003.0026.

Full text
Abstract:
Skin disorders are often encountered in seriously ill patients and they can have significant physical, emotional, social, and spiritual impact. The skin provides protection from the external environment and allows intimacy through the ability to touch and be touched. It is visible to the external world, thus strongly affecting appearance, which in turn impacts social interactions, self-image, and perception of health and well-being. Caring for skin conditions such as wounds may require a significant time commitment and may detract from the time that caregivers are able to devote to other relationships and activities. To improve the quality of life for both children with skin conditions and their families, it is critical to use an interdisciplinary team to take a whole-person approach to the treatment of both the child and the family.
APA, Harvard, Vancouver, ISO, and other styles

Conference papers on the topic "Speech disorders in children – patients and family relationships"

1

Guimarães, Matheus Procópio, Isabella Cristina Muniz Honorato, Diógenes Emanuel Dantas da Silva, Lucca Ferdinando Queiroz Fernandes, Pedro Henrick Guimarães Carvalho, Iury Hélder Santos Dantas, and Bianca Etelvina Santos de Oliveira. "A 26-year-old woman presenting with a history of epileptic crisis, ataxia and cognitive impairment." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.645.

Full text
Abstract:
A 26-year-old woman was referred to a neurology outpatient clinic due to a 9-month history of generalized tonic-clonic seizures, gradually more frequent since onset. She additionally reports developing insidiously over four years ago, an asymmetrical tremor in the upper limbs (worse on the right hand), difficulty walking, speech disorders and decreased visual acuity on the right eye. She had a past medical history of major depressive disorder, but normal neuropsychomotor development in childhood, and did not drink alcohol or smoke tobacco. There is no family history of neurological conditions (she has three brothers and two healthy children). She reports consanguinity (maternal grandparents). Upon neurological examination, the patient was alert, attention was impaired and was not oriented to place or time. Speech was scanned. Her visual acuity was decreased in the right eye (20/100), right gaze-evoked nystagmus and slow saccades. Fundi in both eyes were normal and examination of the other cranial nerves was unremarkable. Based on Medical Research Council grading, the patient had a power of 5/5 in all muscle groups of the lower and upper limbs, deep tendon reflexes in upper limbs were brisk, normal in lower limbs, and plantar responses were flexor bilaterally. Sensory exam was also unremarkable in all four limbs. Appendicular ataxia was present in all members, with rest and intention tremor in upper limbs. During gait she had a noticeable widened base, and steps were unsteady and irregular. Meningismus was absent. A minimental exam was done: 21/30 (eight years of study), with impairment mainly in attention, language and planning. Routine blood tests including full blood count, fasting glucose, B12 level, renal profile, electrolytes, liver function tests, C- reactive protein, serum protein electrophoresis, thyroid function test and erythrocyte sedimentation rate were normal. Serologic tests for syphilis (venereal disease research laboratory), viral hepatitis B and C, and HIV serology were negative. Cerebrospinal fluid analysis showed 01 white blood cell/L, protein 32, glucose 68 mg/dL and absence of oligoclonal bands. Magnetic resonance imaging (MRI) sequences showed significant cerebellar atrophy. Electroencephalogram was normal. A genetic panel was done which shows a mutation on TPP1 gene, compatible with neuronal ceroid lipofuscinosis-2 (CLN-2, OMIM #204500). Neuronal ceroid lipofuscinosis (CLN) is a progressive neurodegenerative lysosomal storage disease caused by the accumulation of lipofuscin in the cerebellum and cerebral cortex, which results in neuronal death. There is an estimated incidence of < 0.5 per 100,000 live births in Europe; in Brazil its prevalence is unknown. With the identification of molecular defects, the CLNs are classified according to the underlying gene defect, regardless of the age at onset. CLN2 is caused by a deficiency of the tripeptidyl peptidase 1 (TPP1) enzyme secondary to mutations in the CLN2 gene, being the most prevalent type observed and the only treatable one. The clinical course includes refractory epilepsy to antiepileptic medications, progressive mental regression and deterioration, ataxia, myoclonus, and visual loss. On MRI, most patients have diffuse cerebellar atrophy, corroborating the clinical finding of central nervous system progressive degeneration.
APA, Harvard, Vancouver, ISO, and other styles
You might also be interested in the extended bibliographies on the topic 'Speech disorders in children – patients and family relationships' for particular source types:
Journal articles Books
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!

To the bibliography