Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Two children with MICPCH who were presented at the Henan Provincial People's Hospital between April 2019 and December 2021 were selected as the study subjects. Clinical data of the two children were collected, along with peripheral venous blood samples of them and their parents, and amniotic fluid sample of the mother of child 1. Whole exome sequencing (WES), array-comparative genomic hybridization (aCGH) and real-time quantitative PCR (qPCR) were carried out for the children, their parents and the fetus. The pathogenicity of candidate variants were evaluated.@*RESULTS@#Child 1 was a 6-year-old girl featuring motor and language delay, whilst child 2 was a 4.5-year-old girl mainly featuring microcephaly and mental retardation. WES revealed that child 2 has harbored a 158.7 kb duplication in Xp11.4 (chrX: 41446160_41604854), which has encompassed exons 4~14 of the CASK gene. The same duplication was not found in either of her parents. aCGH revealed that child 1 has harbored a 29 kb deletion at Xp11.4 (chrX: 41637892_41666665), which encompassed exon 3 of the CASK gene. The same deletion was not found in either of her parents and the fetus. The above results were confirmed by qPCR assay. Above deletion and duplication were not found in the ExAC, 1000 Genomes and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PS2+PM2_Supporting).@*CONCLUSION@#The deletion of exon 3 and duplication of exons 4~14 of the CASK gene probably underlay the pathogenesis of MICPCH in these two children, respectively.

Síndrome de Cotard y retraso mental: reporte de un caso / Cotard syndrome and intellectual disability: a case report

Resumen El síndrome de Cotard, descrito en la historia por presentar diferentes tipos de delirios siendo el principal el nihilista o de negación, ha sido reportado en diversos trastornos neuropsiquiátricos; sin embargo, existe poca literatura que lo refiera en el contexto de retraso mental, por lo que el objetivo del trabajo es examinar las características del Síndrome de Cotard a propósito de un reporte de caso. Presentamos a un paciente de 19 años que cumple con los criterios para Retraso mental y Síndrome de Cortad. Se revisó la literatura, hallando sucinta data en que se presente cuadros similares. Sería muy recomendable continuar evaluando con mayor profundidad la asociación entre retraso mental y síndrome de Cotard e investigar la respuesta al tratamiento, dado que no existen protocolos en nuestra región.

Cotard syndrome, described in the history for presenting different types of delusions being the principal as the nihilistic delusion or delusion of negation, was reported on neuropsychiatric disorders. However, there is little literature that refers to it in the context of mental retardation. The aim of this report case is to explore the characteristics of Cotard syndrome. We present a 19 year-old boy who complete criteria for intellectual disability and Cotard syndorme. The literature was reviewed, finding succinct data associated to cases like this. We recommend to evaluate deeply the association between intellectual disability and Cotard syndrome and to research the treatment, given that there are no protocols in our region.

Variante patogénica en el gen PCDH19 en una paciente con epilepsia y discapacidad cognitiva / Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability

INTRODUCCIÓN: La asociación de casos familiares de epilepsia y discapacidad intelectual (DI) en mujeres fue reportada en 1971. El año 2008, se identificó el rol de variantes patogénicas del gen PCDH19 en algunas familias. La enfermedad se presenta con crisis febriles en cluster, DI y rasgos autistas. La mayoría se debe a variantes de novo, pero hay algunos casos heredados por un modo peculiar de transmisión ligada X. OBJETIVO: Comunicar el caso de una paciente con epilepsia portadora de una variante patogénica en el gen PCDH1 9, revisando la historia natural de la enfermedad y la evidencia disponible para su manejo. CASO CLÍNICO: Paciente femenina, con antecedentes de embarazo y período perinatal normal. A los 6 meses, estando febril, presentó crisis focales motoras en cluster que repitieron a los 14, 18, 21 meses y 3 años siempre asociadas a fiebre, presentando incluso estatus epiléptico. Mantiene biterapia con topiramato y ácido valproico, completando 13 años sin crisis. El estudio del gen SCN1A no mostró anomalías y el estudio del gen PCDH19 reveló una variante patogénica en heterocigosis, "de novo". La paciente ha evolucionado con DI y alteraciones conductuales severas que requieren aten ción de salud mental. CONCLUSIONES: Las variantes patogénicas PCDH19 tienen expresión fenotípica variada. El diagnóstico genético debe sospecharse con la clínica. La morbilidad psiquiátrica a largo plazo puede ser incapacitante.

INTRODUCTION: The association of family cases of epilepsy and intellectual disability in women was reported in 1971. In 2008, the role of pathogenic variants of the PCDH19 gene in some families were identified. The disease presents with febrile seizure clusters, intellectual disability, and autistic features. Most cases are due to de novo variants, however, there are some inherited cases, with an atypical way of X-linked transmission. OBJECTIVE: To report the case of a patient with epilepsy carrier of a pathogenic variant of the PCDH19 gene, reviewing the natural history of this condition and the available evidence for its management. CLINICAL CASE: Female patient, with normal history of pregnancy and perinatal period. At 6 months, while febrile, she presented focal motor seizure clusters that repeated at 14, 18, 21 months and 3 years old, always associated with fever, even presenting status epilepticus. She is on therapy with topiramate and valproic acid, achieving 13 seizure-free years. The analysis of the SCN1A gene showed no abnormalities and the study of the PCDH19 gene revealed a de novo heterozygous pathogenic variant. The patient evolved with intellectual disability and severe behavioral disorders that require mental health team support. CONCLUSIONS: PCDH19 pathogenic variants have varied phenotypic expression. The genetic diagnosis should be guided with the clinical features. Long-term psychiatric morbidity can be disabling.

Swallowing in Patients with Mental Disability - Analysis of 189 Swallowing Video Endoscopies

Abstract Introduction Feeding, swallowing and breathing are fundamental activities for the survival and well-being of humans; these functions are performed by themost complex neuromuscular unit of the human body, which, when altered, may raise morbidity and mortality rates. Objective To evaluate deglutition in patients with mental disability in order to determine the incidence and the severity of dysphagia. Methods A total of 189 institutionalized adult patients with mental disability were analyzed using a 3.2 mm flexible fiberscope (Machida, Japan 1995). The following food consistencies were tested: pasty, thickened liquid and liquid. Results Among the total of 189 patients, 101 (53.4%) were female aged between 14 and 55 years old. Most of them 120 (63.5%) had profound mental deficiency, 58 (30.7%) had severe mental deficiency, 9 (4.8%) had moderate mental deficiency, and 2 (1.1%) had mild mental deficiency. Gender and the degree of mental deficiency did not influence significantly the degree of dysphagia. Age, degree of disability and interaction between age groups and degrees of disability influenced significantly the degree of dysphagia. Younger patients are more likely to present more severe dysphagia. Stabilization occurs between 31 and 40 years of age, and above this age, a greater chance of less severe dysphagia, because the increase in the degree of mental deficiency decreases the probability of more severe dysphagia. Conclusion The population that mostly presented severe dysphagia was characterized by being mostly female, with profound mental deficiency, with an average age of 36.7 years. There was no relationship between gender and the degree of mental disability concerning the degree of dysphagia. (AU)

The aging of families with members with intellectual disabilities / El envejecimiento en las familias con integrantes con discapacidad intelectual / O envelhecimento de famílias com integrantes com deficiência intelectual

ABSTRACT Objective: to understand the structure and dynamics of families in the late stage of the life cycle that have a member with intellectual disability. Method: qualitative research using the Calgary Family Assessment Model as methodological framework. The study had 38 participants, distributed into 10 families that had a member with intellectual disability and whose parents were elderly. The interviews were analyzed with content analysis technique. Results: the following analytical categories were evidenced: "living with intellectual disability", "communication as a strategy for encounter", "family isolation and the need for support" and "concerns about care in the future". Conclusion: families in the late life cycle who had a member with intellectual disability are arranged in a structure that overloads a single caregiver (mother), has little support network, uses communication as an instrument for understanding themselves and the other, besides having difficulties in projecting the future.

RESUMEN Objetivo: conocer la estructura y la dinámica de familias en la etapa tardía del ciclo vital que tienen un integrante con discapacidad intelectual. Método: investigación cualitativa que utiliza el Modelo Calgary de Evaluación Familiar (MCEF) como referencial metodológico. Participaron 38 individuos, distribuidos en 10 familias que tienen un integrante con discapacidad intelectual y cuyos padres eran adultos mayores. Se analizaron las entrevistas mediante la técnica de análisis de contenido. Resultados: se destacaron las siguientes categorías analíticas: "Conviviendo con la discapacidad intelectual", "Comunicación como estrategia de encuentro", "Aislamiento familiar y la necesidad de apoyo" y "Preocupaciones con el cuidado en el futuro". Consideraciones finales: las familias en el ciclo tardío de vida que tienen un integrante con discapacidad intelectual se estructuran con una sobrecarga a una sola cuidadora (la madre), cuentan con poca red de apoyo, utilizan la comunicación como un instrumento de entendimiento de sí misma y del otro, además de enfrentarse a dificultades para hacer planes para el futuro.

RESUMO Objetivo: conhecer a estrutura e a dinâmica de famílias no estágio tardio do ciclo vital que possuam um integrante com deficiência intelectual (PCDI). Método: pesquisa qualitativa com uso do Modelo Calgary de Avaliação Familiar (MCAF) como referencial metodológico. Participaram 38 sujeitos, distribuídos em dez famílias que possuíam um integrante com deficiência intelectual e cujos pais eram idosos. As entrevistas foram analisadas com a técnica de análise de conteúdo. Resultados: evidenciaram-se as seguintes categorias analíticas: "convivendo com a deficiência intelectual", "comunicação como estratégia de encontro", "isolamento familiar e a necessidade de apoio" e "preocupações com o cuidado no futuro". Considerações finais: as famílias no ciclo tardio da vida que possuíam um integrante com deficiência intelectual se estruturavam de modo a sobrecarregar uma única cuidadora (mãe), possuíam pouca rede de apoio, usavam a comunicação como um instrumento de compreensão de si e do outro, além de terem dificuldades de projeção para o futuro.

Effect of bovine milk fermented with Lactobacillus rhamnosus L8020 on periodontal disease in individuals with intellectual disability: a randomized clinical trial

Abstract Studies on the oral health of individuals with intellectual disability (ID) have identified problems that include a high prevalence of periodontal disease. The use of probiotics to treat periodontal disease has been the focus of considerable research, and bovine milk fermented with Lactobacillus rhamnosus L8020 (L8020 yogurt) has been shown to reduce the oral prevalence of four periodontal pathogens. Objective The aim of this randomized, double-blind, placebo-controlled trial was to compare the effects of L8020 yogurt (test group) with those of placebo yogurt (placebo group) on the papillary-marginal-attached (PMA) index, gingival index (GI), and probing depth (PD) in 23 individuals with ID. Methodology All patients were required to consume the allocated yogurt after breakfast for 90 days. PMA index and GI scores as well as PDs were assessed before the start of yogurt consumption (baseline), after 45 and 90 days of consumption, and 30 days after the cessation of consumption. Student's t-test, Mann-Whitney U test or Fisher's exact test was used for inter-group comparisons, and the mixed effect model of repeated measurements was used for data analysis. Results The decrease in PMA index score was significantly greater in the test group than in the placebo group (p<0.001). The GI score also decreased during the study, with a tendency for greater decrease in the test group. Furthermore, decreases in PD between baseline, 45 and 90 days tended to be greater in the test group than in the placebo group. Conclusion These results suggest that regular consumption of bovine milk fermented with L. rhamnosus L8020 can lower the risk of periodontal disease in individuals with ID.

Psicosis, Discapacidad intelectual y trastornos conductuales: enfoque biopsicosocial / Psychosis, intellectual disability and behavioral disorders: biopsychosocial approach

Caso Clínico: Mujer, 23 años. Discapacidad intelectual. Asiste a colegio especial (no lee ni escribe). Institucionalizada. Motivo de ingreso: Paciente ingresa en octubre del 2017 traída por carabineros por ser encontrada en la calle bajo el efecto de múltiples sustancias, con ideación suicida. Días antes fue expulsada del hogar por agresión a cuidadoras. Diagnósticos de ingreso: Discapacidad intelectual moderado. Síndrome suicidal, Trastorno por dependencia a drogas. ¿Esquizofrenia hebefrénica? Evolución: Mantiene desajustes conductuales severos fluctuantes, con serias dificultades para manejar la rabia, lo que la lleva a tener conductas hetero y autoagresivas. Plan de tratamiento: Farmacológico (clozapina), Psicológico (TCC), Social (dispositivo adecuado post-alta). Clozapina para trastornos psicóticos en adultos con discapacidad intelectual. El principal riesgo de atribuir alguno de estos comportamientos a una supuesta "psicosis", es el de "medicalizar" y tratar de forma poco acertada. Es importante descartar factores ambientales y del aprendizaje (hábitos y conductas aprendidas, institucionalización, reacciones ante el estrés agudo.) La prevalencia de abuso y dependencia de sustancias en población con DI va desde el 0,5% al 2,6%. Lo cual es menor que la población general. Pacientes con DI y dependencia a drogas se asocia a otras enfermedades psiquiátricas (42-54%). Se ha informado que las personas con discapacidad intelectual en América Latina a menudo están institucionalizadas y escondidas de la sociedad en instalaciones deficientes y superpobladas.

Clinical Case: Female, 23 years old. Intellectual disability. He attends a special school (she does not read or write). Institutionalized. Reason for admission: Patient enters in October 2017 brought by police officers to be found in the street under the effect of multiple substances, with suicidal ideation. Days before she was expelled from the home because of assaulting caregivers. Admission diagnoses: Moderate intellectual disability. Suicidal syndrome, Disorder due to drug dependence. Hebephrenic schizophrenia? Evolution: Maintains fluctuating severe behavioral imbalances, with serious difficulties in managing rage, which leads to hetero and self-aggressive behaviors. Treatment plan: pharmacological (clozapine), Psychological (CBT), Social (adequate post-hospitalization discharge device). Clozapine for psychotic disorders in adults with intellectual disabilities. The main risk of attributing some of these behaviors to a supposed "psychosis" is that of "medicalizing" and dealing inappropriately. It is important to rule out environmental and learning factors (habits and behaviors learned, institutionalization, reactions to acute stress. The prevalence of substance abuse and dependence in the population with ID ranges from 0.5% to 2.6%. Which is less than the general population. Patients with ID and drug dependence are associated with other psychiatric illnesses (42-54%). It is reported that people with intellectual disabilty in Latin America are often institutionalized and hidden from society in poor and overcrowded facilities.

Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs

Abstract: Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases of this rare disorder have been published. The authors report a case of trichothiodystrophy in a male infant with ichthyosis, photosensitivity, spastic paraparesis, short stature, and neurologic and psychomotor retardation. Diagnosis was based on clinical and microscopic features of hair samples.

Caregivers' Perception of Health Status and Aging in People with Intellectual Disability in São Paulo, Brazil. Is it different from general population? / Percepção de cuidadores sobre o estado de saúde e envelhecimento de pessoas com Deficiência Intelectual, em São Paulo, Brasil. É diferente de população em geral? / Percepción de los cuidadores del estado de salud y envejecimiento en personas con Discapacidad Intelectual en Sao Paulo, Brasil. ¿Es diferente de la población en general?

We performed a survey of observed changes during last five years answered by caregivers of 195 people with mild to moderate intellectual disability (age 35-60 years) in domains: daily activities; neurological and psychic/psychiatric functions. There were statistically significant differences (p<0.05) among individuals with intellectual disability (with and without Down syndrome) and healthy controls with referred deterioration in all areas.

Se realizó un estudio de los cambios observados durante los últimos cinco años respondidas por los cuidadores de 195 personas con discapacidad intelectual leve a moderada (edad 35-60 años) en los dominios: las actividades diarias; las funciones neurológicas y psíquicas / psiquiátricos. Se encontraron diferencias estadísticamente significativas (p <0,05) entre las personas con discapacidad intelectual (con y sin síndrome de Down) y controles sanos con el deterioro reportado en todas las áreas.

Uma pesquisa foi realizada sobre mudanças observadas por cuidadores, durante os últimos cinco anos, em 195 pessoas com deficiência intelectual leve a moderada (idade 35-60 anos), nos seguintes domínios: atividades diárias, funções neurológicas e psíquicas. Houve diferença estatisticamente significativa (p<0,05) entre os indivíduos com deficiência intelectual (com e sem síndrome de Down) e controles saudáveis com deterioração referida em todas as áreas.

Sindrome de Rett. Reporte de dos casos / Rett syndrome. Two Cases Report

El Síndrome de Rett es un trastorno severo del neurodesarrollo, caracterizado por un desarro- llo psicomotor aparentemente normal hasta los primeros 6 meses de vida seguido por el estancamiento y regresión del crecimiento, sistema motor, lenguaje y habilidades sociales posteriores, no asociado a una injuria cerebral por trauma, desordenes metabólicos o infec- ciones severas. A menudo se observa un com- portamiento autista en etapas tempranas: otros síntomas que acompañan este trastorno incluyen convulsiones, alteraciones respirato- rias como la hiperventilación, apnea y aerofa- gia, ataxia y estereotipas con las manos. Repre- senta la segunda causa de discapacidad inte- lectual en las mujeres. Es causado por una mutación ligada a X que codifica a la proteína ligadora de metil CpG-2 (MECP2). A continua- ción se presentan dos casos de pacientes con síndrome de Rett una de ellas con estudio molecular positivo...(AU)

Perfil antropométrico en función del estado nutricional de niños con discapacidad intelectual / Nutritional status in children with intellectual disabilities based on anthropometric profile

Introducción: Las variables antropométricas de peso, altura y longitudes corporales de niños y adolescentes con y sin discapacidad intelectual deben ser estudiadas en función del estado nutricional, del crecimiento físico y la maduración biológica. Objetivos: a) analizar el perfil antropométrico en función de las categorías del estado nutricional, b) determinar la prevalencia de exceso de peso y baja estatura y c) proponer ecuaciones de predicción de la estatura a partir de variables antropométricas. Pacientes y Método: Se estudiaron 49 niños y adolescentes con discapacidad intelectual (30 hombres y 19 mujeres) de una escuela de educación especial. Se evaluaron el peso, la estatura, la altura troncocefálica, y la longitud del antebrazo y el pie. El cálculo del estado nutricional permitió establecer categorías nutricionales: bajo peso, peso normal y exceso de peso. Resultados: El perfil antropométrico de los varones varía significativamente cuando se clasifica por categorías nutricionales (p < 0,05); por el contrario, en las mujeres no hubo variación alguna (p > 0,05). Además, en ambos sexos se observaron altos valores de prevalencia de exceso de peso (varones 43% y mujeres 26%). Las variables como edad, peso, longitud del antebrazo en mujeres y longitud del pie en varones son buenos predictores de la estatura (hombres R² = 91-94% y mujeres R² = 87%). Conclusiones: Hubo un alto porcentaje de exceso de peso y se sugiere un riguroso control y seguimiento del estado nutricional. Las ecuaciones de regresión propuestas podrían ser una alternativa para ser utilizadas en el trabajo cotidiano de la escuela y predecir la estatura de forma fácil y sencilla.

Introduction: Anthropometric variables such as weight, height and body length in children and adolescents with and without intellectual disabilities should be studied in connection with nutritional status, physical growth and biological maturation. Objective: a) to analyze the anthropometric profile based on nutritional status, b) to determine the prevalence of overweight and short stature c) to propose equations for predicting height from anthropometric variables. Methods: A total of 49 children and adolescents with intellectual disabilities, and from a special education school were studied (30 boys and 19 girls). Weight, height, trunk-cephalic height, forearm and foot length were evaluated. The calculation of nutritional status resulted in the establishment of nutritional categories: underweight, normal and overweight. Results: The anthropometric profile of males varies significantly when classified according to nutritional categories (P<.05); however no variations were observed in the girls (P>.05). Also, high values of overweight prevalence were observed in both genders (43% of boys and 26% of girls). Variables such as age, weight, length of the forearm in females, and foot length in males are good predictors of height (R² = 91-94% males and R² = 87% females). Conclusions: A high percentage of overweight cases were observed; therefore, rigorous control and monitoring of nutritional status are suggested. The proposed regression equations could be an option in schools to easily and simply predict height.

Intervención neuropsicológica en un caso de retardo mental asociado a síndrome de Down / Neuropsychological Rehabilitation on mental retardation associated with Down's syndrome

Dentro de la población afectada de retraso mental, el síndrome de Down (SD) constituyen uno de los grupos más estudiados y es una de las causas genéticas más comunes, ocurriendo con gran frecuencia. Esta condición es el resultado de una anormalidad de los cromosomas, esta desviación en el desarrollo de las células resulta en la producción de 47 cromosomas en lugar de 46 que se consideran normales. El cromosoma adicional cambia totalmente el desarrollo ordenado del cuerpo y cerebro, produciendo alteraciones evidentes tanto físicas como cognitivas que afectan la capacidad adaptativa. El objetivo de este artículo es presentar el caso de una paciente con SD y mostrar los resultados de la aplicación de un programa de intervención neuropsicológica centrado en el fortalecimiento del factor primario, como eje para facilitar el funcionamiento sistémico. Se presenta la valoración previa a la intervención, el contenido del programa de intervención con los ejemplos de ejecuciones de la paciente, una valoración posterior y un análisis comparativo. La discusión se centra en la importancia de la identificación del mecanismo neurofisiológico primario que desorganiza la actividad, como eje fundamental para lograr efectos positivos en actividades de tipo voluntario mediante el lenguaje como regulador...

Within the affected population in mental retardation, Down syndrome (DS) is one of the most studied and is one of the most common genetic causes, occurring with great frequency. This condition is the result of an abnormality of chromosomes, a deviation in the development of cells results in production of 47 chromosomes instead of 46 which are considered normal. The extra chromosome changes the orderly development of the body and brain, causing both physical and obvious alterations that affect cognitive adaptive capacity. The aim of this paper is to present the case of a patient with SD and display the results of the application of a neuropsychological intervention program focused on strengthening the primary factor, as an axis to facilitate systemic functioning. It comes pre assessment, the content of the intervention program with examples of executions of the patient, after a review and comparative analysis. The discussion focuses on the importance of identifying the primary neurophysiological mechanism that disrupts the activity, as the linchpin for achieving positive effects on activities of a volunteer through language as a regulator...

Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency.

Family perceptions of intellectual disability: understanding and support in Dar es Salaam

When attempting to understand the construct of intellectual disability in different contexts, speaking to family members in addition to the individual with the disability may provide new insight about understandings of and responses to intellectual disability in society and may help to identify the forms of support that are available or needed to ensure the quality of life of people with disabilities. This article outlines and discusses interviews that were conducted in Dar es Salaam, Tanzania, with family members of children and adults with intellectual disabilities. These interviews explore how families came to understand that their child had an intellectual disability, the availability of family support, and family hopes and dreams for the future, and were a part of a wider exploratory study that gathered insight from individuals with disabilities, families, and other providers of support to explore understandings and perceptions of disability in Dar es Salaam. Understanding family experiences will help researchers; policy makers, non-governmental organisations, and others to identify family strengths and family support needs which can ultimately improve family quality of life and the quality of life of the member with a disability

The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.

Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene

Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13-yr-old boy with cystinuria who manifested difficulty in walking, ataxia, and mental retardation. Somatosensory evoked potential of posterior tibial nerve stimulation showed the central conduction dysfunction through the posterior column of spinal cord. He was diagnosed non-type I cystinuria by urinary amino acid analysis and oral cystine loading test. We screened him and his family for gene mutation by direct sequencing of SLC3A1 and SLC7A9 genes. In this patient, we identified new missence mutation G173R in SLC7A9 gene.

MRI findings in Joubert syndrome.

Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings.

Morbid obesity in an adolescent with Prader-Willi syndrome / Obesidad mórbida en una adolescente con síndrome de Prader-Willi

Prader- Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m², that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels ofblood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high bloodpressure and respiratory failure, which needed intensive care support. Moreover, sequéis and clear signs of recent selfinjuries were observed in her trunk, forearms and hands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader- Willi syndrome are emphasized.

El síndrome de Prader-Willi es un desorden multisistémico infrecuente causado por defectos genéticos del cromosoma 15 (15qll-ql3), debido a deleciones o disomía uniparental. Se caracteriza por hipotonía neonatal, dismorfias faciales, baja estatura, incapacidades motoras y mentales, problemas conductuales, hiperfagia, obesidad precoz e hipogonadismo hipogonadotrófico. Presentamos una mujer de 17 años, con IMC de 74 Kg/m² con diagnóstico genético previo del síndrome que ingresó con anasarca, intensa cianosis, disnea y oliguria. Presentaba elevación plasmática de urea, creatinina y aminotransferasas, asociadas con hiperkalemia e hiperuricemia. Había utilizado regularmente ñuoxetina durante los seis meses precedentes y evolucionó con hipertensión arterial severa e insuficiencia respiratoria, que requirieron de cuidados intensivos. Además, se constataron cicatrices y claras señales de automutilación reciente en su tronco, antebrazos y manos. Se destacan los hallazgos de obesidad mórbida, anasarca, automutilación, hiperuricemia e hipoxemia en el síndrome de Prader-Willi.

Ophthalmogenetic and epidemiological studies of Egyptian children with mental retardation

Mental retardation [MR] is a congenital or early onset lifelong impairment of cognitive adaptive functioning or daily living skills. It is a serious and lifelong disability that places heavy demands on society and the health system. The prevalence of visual and ocular disorders in children with MR is high and can influence sensory-motor development and learning ability. Assessment of the genetic and epidemiologic aspects of mental retardation and clarifying the ocular and visual problems among mentally disabled children. A cross-sectional hospital based study was conducted, through a period of two years, included 190 children under 18 years of age with mild to profound intellectual disabilities who were diagnosed among 480 cases referred to the Genetic clinic, Research Institute of Ophthalmology for genetic diagnosis and counseling. The definition of MR and the criteria for diagnosis were adopted from the World Health Organization [WHO] classification. The etiology of MR was specified by obtaining information about the personal and family history that included a three generation pedigree analysis, with special attention to the presence of similar cases, thorough clinical examination including complete neurological evaluation, chromosomal and other investigative studies. Ophthalmologic examination included visual acuity testing, ocular motility and examination of the external eye and anterior segment; cycloplegic refraction and fundus examination. One hundred and ninety patients representing 39.6% of the total examined cases in two years were classified etiologically into 6 groups. Specific causes were found in 161 cases [84.7%] and the etiology was unknown in 15.3% of children. Metabolic and chromosomal disorders comprised the most common etiological problems of the examined mentally retarded children in this study. The percentage of mild, moderate, severe and profound MR was 67.5%, 26%, 5.8% and 0.7%, respectively. Family history was positive in 34.7% of patients and autosomal recessive inheritance was the commonest mode of transmission [48.4%] that reflects the high percentage of consanguineous marriages among Egyptians. Microscopically visible chromosomal anomalies of intellectually disabled patients included 25 numerical and 11 structural aberrations. Errors of refraction and strabismus were the most common in children with chromosomal disorders [24.7%] and [28.1%] respectively. While the highest percentage of optic atrophy, retinal dystrophy, microphthalmia, cataract and corneal opacities were diagnosed in children with metabolic disorders representing 76.2%, 93.3%-, 38.5%, 50% and 80% of cases diagnosed in all categories respectively. In this study, metabolic and chromosomal disorders represented the most common etiological problems among the examined mentally retarded children with the highest proportion of specific ocular and visual problems represented among them to the extent that the eye could be considered as a window for their diagnosis. In most cases, diagnosis will assist families in understanding the condition, its prognosis and recurrence risks; more epidemiological studies have to be undertaken to determine the magnitude of the problem and its pattern of distribution in our country. The results also emphasize the need for establishing an efficient system to provide regular ophthalmic care for children with mental retardation