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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1111-1114, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703138

RESUMO

OBJECTIVE: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. METHODS: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. RESULTS: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. CONCLUSION: A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.


Assuntos
Deficiências do Desenvolvimento/genética , Epilepsia/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Epilepsia/complicações , Humanos , Lactente , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Masculino , Mutação , Convulsões
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1115-1119, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703139

RESUMO

OBJECTIVE: To explore the genetic basis for a boy with mental retardation. METHODS: Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using a panel for genes associated with intellectual impairment. Suspected variants were verified by PCR and Sanger sequencing. RESULTS: The child presented with mental retardation, language delay and poor self-care. Imaging analysis showed widening of brain fissures and subarachnoid space, and dysplasia of corpus callosum. Three novel heterozygous variants, namely c.1705T to C (p.S569P), c.1708dupC (p.R570Pfs*80) and c.2273delA (p.N758Tfs*22), were identified in the TRAPPC9 gene. The mother of the proband has carried the c.1708dupC (p.R570Pfs*80) and c.1705T to C (p.S569P) variants, while his father has carried the c.2273delA (p.N758Tfs*22) variant. CONCLUSION: The compound heterozygous variants of the TRAPPC9 gene probably underlie the disease in this family. Considering the clinical and genetic heterogeneity of mental retardation, genetic testing is essential for attaining diagnosis for patients with the relevant phenotype.


Assuntos
Proteínas de Transporte/genética , Deficiência Intelectual/genética , Criança , Testes Genéticos , Heterozigoto , Humanos , Masculino , Mutação , Fenótipo
3.
Medicine (Baltimore) ; 98(43): e17616, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651874

RESUMO

RATIONALE: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases. PATIENT CONCERNS: An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal. DIAGNOSES: Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505*) was tested by whole-exome sequencing. INTERVENTIONS: Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given to the patient for treating subclinical hypothyroidism. OUTCOMES: The parents decided to abandon the treatment of the patient. We learned that the patient died of a lung infection by a telephone follow-up. LESSONS: Subclinical hypothyroidism could be added to the known clinical manifestations of SGBS1.


Assuntos
Arritmias Cardíacas/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Gigantismo/diagnóstico , Cardiopatias Congênitas/diagnóstico , Hipotireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , China , Diagnóstico Diferencial , Evolução Fatal , Humanos , Recém-Nascido , Masculino
4.
J Indian Soc Pedod Prev Dent ; 37(3): 308-310, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31584034

RESUMO

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic condition which causes reduced pain sensation, thermal sensation, and habit of self-mutilation. It is a life-threatening condition where due to reduced pain sensation, patient might not understand the severity of the injury which can eventually lead to death. Such people live a compromised life and can also affect them psychologically. Here, we are reporting a case of an infant with clinical features suggestive of CIP with a mutation in exon 5 of PRDM12 gene. The child has minimal response to pain along with self-mutilation and mental retardation.


Assuntos
Deficiência Intelectual , Insensibilidade Congênita à Dor , Automutilação , Proteínas de Transporte , Criança , Humanos , Lactente , Masculino , Proteínas do Tecido Nervoso , Dor
5.
Community Dent Health ; 36(4): 255-261, 2019 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-31664796

RESUMO

OBJECTIVE: This study compared the caregiver-perceived and dentist-determined oral health status of patients with intellectual disabilities to determine factors that affect caregiver-perception of patients' oral health. MATERIALS AND METHODS: 297 patients [mean (SD) age = 51.9 (12.5) years] and 56 professional caregivers [42.1 (8.2) years] from three institutional facilities took part. Data were acquired via self-administered questionnaires by caregivers and oral examination by dentists. Oral hygiene condition, numbers of decayed and missing teeth, and periodontal disease reported by caregivers and dentists were compared using paired t-test and Pearson correlation. Demographic and dental factors of the patients and caregivers were analyzed using chi square and Fisher's exact tests. RESULTS: Caregivers underestimated decayed and missing teeth compared to dentists (p⟨0.05). Oral hygiene condition and periodontal disease were similarly rated by the two groups. Tooth brushing, diet type, sex, and overall oral health status of the patients were associated with caregiver perception (p⟨0.05). Career length and time since caregivers last received dental care were also related factors (p⟨0.05). CONCLUSION: Professional caregivers of adult patients with intellectual disabilities had different perceptions of oral health status based on patient and caregiver circumstances.


Assuntos
Deficiência Intelectual , Adulto , Cuidadores , Odontólogos , Nível de Saúde , Humanos , Saúde Bucal , Higiene Bucal , Inquéritos e Questionários
6.
Cytogenet Genome Res ; 159(1): 1-11, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31658463

RESUMO

The switch/sucrose non-fermenting (SWI/SNF) complex is an ATP-dependent chromatin remodeller that regulates the spacing of nucleosomes and thereby controls gene expression. Heterozygous mutations in genes encoding subunits of the SWI/SNF complex have been reported in individuals with Coffin-Siris syndrome (CSS), with the majority of the mutations in ARID1B. CSS is a rare congenital disorder characterized by facial dysmorphisms, digital anomalies, and variable intellectual disability. We hypothesized that mutations in genes encoding subunits of the ubiquitously expressed SWI/SNF complex may lead to alterations of the nucleosome profiles in different cell types. We performed the first study on CSS-patient samples and investigated the nucleosome landscapes of cell-free DNA (cfDNA) isolated from blood plasma by whole-genome sequencing. In addition, we studied the nucleosome landscapes of CD14+ monocytes from CSS-affected individuals by nucleosome occupancy and methylome-sequencing (NOMe-seq) as well as their expression profiles. In cfDNA of CSS-affected individuals with heterozygous ARID1B mutations, we did not observe major changes in the nucleosome profile around transcription start sites. In CD14+ monocytes, we found few genomic regions with different nucleosome occupancy when compared to controls. RNA-seq analysis of CD14+ monocytes of these individuals detected only few differentially expressed genes, which were not in proximity to any of the identified differential nucleosome-depleted regions. In conclusion, we show that heterozygous mutations in the human SWI/SNF subunit ARID1B do not have a major impact on the nucleosome landscape or gene expression in blood cells. This might be due to functional redundancy, cell-type specificity, or alternative functions of ARID1B.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Proteínas Nucleares/genética , Nucleossomos/genética , Fatores de Transcrição/genética , Adolescente , Ácidos Nucleicos Livres/sangue , Ácidos Nucleicos Livres/genética , Criança , Pré-Escolar , Feminino , Genoma Humano/genética , Estudo de Associação Genômica Ampla , Humanos , Masculino , Monócitos/citologia , Adulto Jovem
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 989-992, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598942

RESUMO

OBJECTIVE: To explore the nature and origin of chromosomal copy number variants (CNVs) in a pedigree affected with mental retardation. METHODS: Genomic CNVs of the proband were analyzed by next generation sequencing (NGS). Chromosomal karyotypes of the proband and his relatives were analyzed with high-resolution karyotyping and fluorescence in situ hybridization (FISH). RESULTS: Clinical phenotypes of the proband and other patients from the pedigree included mental retardation and mild dysmorphism. The results of NGS revealed that the proband carried a 16.24 Mb microduplication at 4p16.3-15.32 and a 2.2 Mb microdeletion at 8p23.3-23.2. Other patients of the pedigree harbored the same variants, while those without the phenotypes did not harbor the variants. The results of high-resolution karyotyping and FISH revealed that the mother of the proband carried a reciprocal translocation between 4p and 8p, and her karyotype was 46,XX,t(4;8)(p16;p23). No karyotypic abnormality was detected in his father. CONCLUSION: The abnormal phenotypes of this pedigree may be attributed to 4p microduplication in conjunct with 8p microdeletion derived from a maternal balanced translocation between 4p and 8p.


Assuntos
Aberrações Cromossômicas , Duplicação Cromossômica , Testes Genéticos , Deficiência Intelectual/genética , Cromossomos Humanos Par 4 , Cromossomos Humanos Par 8 , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linhagem , Fenótipo
8.
N C Med J ; 80(5): 317-319, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31471520

RESUMO

Medicaid transformation in North Carolina marks the next step in a lengthy history of caring for individuals with behavioral health challenges. "Tailored" health plans will cover people with severe mental illness, substance use disorders, intellectual/developmental disabilities, and traumatic brain injury, a vulnerable population that North Carolina's LME/MCOs are uniquely qualified to serve.


Assuntos
Programas de Assistência Gerenciada/organização & administração , Medicaid/organização & administração , Lesões Encefálicas Traumáticas , Deficiências do Desenvolvimento , Humanos , Deficiência Intelectual , Transtornos Mentais , North Carolina , Transtornos Relacionados ao Uso de Substâncias , Estados Unidos , Populações Vulneráveis
9.
Zh Nevrol Psikhiatr Im S S Korsakova ; 119(7. Vyp. 2): 83-90, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31532595

RESUMO

The paper considers the phenomenon of «mental atony¼ in children with developmental delay, intellectual disability and autism. The condition of mental atony is a congenital or early acquired even decrease in mental tone, manifested by the reduced ability to concentrate attention, a decline of the targeted activity, difficulties in contacting, weakening of unconditioned reflexes, lack of instinctive manifestations, «mobilization¼ of mental functions by persistent verbal and tactile stimulation. The article provides the history of the «mental atony¼ theory, as well as clinical features, epidemiology, etiology, pathogenesis and nosological specificity of the condition. Moreover, the criteria for the differential diagnosis between the atonic form of intellectual disability and autism are discussed in detail. Based on the analysis of literature and the results of own clinical observations, the authors conclude that a thorough differential analysis between childhood autism and atonic form of intellectual disability in children is necessary, otherwise, there is a risk of overdiagnosis of autistic disorders. The authors also point to the role of the brain lesion, particularly in the area of reticular formation, in the occurrence of phenomena of mental atony.


Assuntos
Transtorno Autístico , Deficiência Intelectual , Teoria da Mente , Criança , Deficiências do Desenvolvimento , Humanos , Processos Mentais
10.
Cytogenet Genome Res ; 159(1): 19-25, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31487712

RESUMO

The role of autosomal recessive (AR) variants in clinically heterogeneous conditions such as intellectual disability and developmental delay (ID/DD) has been difficult to uncover. Implication of causative pathogenic AR variants often requires investigation within large and consanguineous families, and/or identifying rare biallelic variants in affected individuals. Furthermore, detection of homozygous gene-level copy number variants during first-line genomic microarray testing in the pediatric population is a rare finding. We describe a 6.7-year-old male patient with ID/DD and a novel homozygous deletion involving the FRY gene identified by genomic SNP microarray. This deletion was observed within a large region of homozygosity on the long arm of chromosome 13 and in a background of increased low-level (2.6%) autosomal homozygosity, consistent with a reported common ancestry in the family. FRY encodes a protein that regulates cell cytoskeletal dynamics, functions in chromosomal alignment in mitosis in vitro, and has been shown to function in the nervous system in vivo. Homozygous mutation of FRY has been previously reported in 2 consanguineous families from studies of autosomal recessive ID in Middle Eastern and Northern African populations. This report provides additional supportive evidence that deleterious biallelic mutation of FRY is associated with ID/DD and illustrates the utility of genomic SNP microarray detection of low-level homozygosity.


Assuntos
Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Deleção de Sequência/genética , Sequência de Bases/genética , Criança , Consanguinidade , Citoesqueleto/genética , Citoesqueleto/metabolismo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único/genética
11.
Psychiatr Danub ; 31(Suppl 3): 455-461, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488772

RESUMO

Complex disability is very difficult to manage. It usually subtends very serious clinical pictures, because it affect several body systems, or because it is associated with intellectual disability and behavioral disorders. Often affected patients are unable to communicate their basic needs. All these factors combine to make the management of these patients very complex, and those who care for them realize how important it is to find a way to detect their state and to identify their potential capabilities. Developing appropriate rehabilitation programs for these patients requires additional effort and an assessment capacity that is as objective as possible. Few scales cited in the literature are capable of evaluating these aspects in patients with complex disabilities, among them the Barthel Index (Mahoney & Barthel 1965) and the Vineland Adaptive Behavior scale II (Sparrow et al. 2005). The majority of these scales often tend to depict the data regarding the disease to a degree of severity that precludes adequate individual rehabilitation program development. There is a dire need for a more appropriate instrument, an observational grid that is capable of identifying the potential of this patient population and evaluate the effectiveness of rehabilitation interventions provided. The aim of the study is to evaluate the efficacy of rehabilitation interventions in a group of patients with IQ <32 (determined by the Vineland II scale) using an evaluation tool created ad hoc called D-Rubrics, designed with the intent to identify "micro-differences" between baseline (T0) and post-rehabilitation (T1). The goal is part of a more long term-term objective which involves developing an effective assessment tool for patients with complex disabilities. Such an assessment tool should be practical, easy to administer and useful in both clinical and research settings.


Assuntos
Transtornos do Neurodesenvolvimento/reabilitação , Reabilitação/normas , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/reabilitação , Transtornos do Neurodesenvolvimento/complicações , Avaliação de Resultados (Cuidados de Saúde)
12.
Psychiatr Danub ; 31(Suppl 3): 462-466, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488773

RESUMO

Individuals with multiple disabilities can have a wide range of characteristics depending on the combination and severity of the disabilities, such as intellectual disability, mobility issues, sensorial impairment, language issues and brain injury. New technologies can help therapists find an alternative way to engage and interact with clients by opening a communication window and starting to build the therapeutic relationship. The need to use more customized technological tools led us to develop the Painteraction system, an intuitive tool based on Augmented Reality that allows clients to be immersed in their own images. Just by moving their bodies individuals are able to make drawings and receive visual feedback, both from themselves and their therapists, as it appears on the screen. The pilot testing of Painteraction was performed on 21 inpatients at Istituto Serafico (Assisi, Italy) with severe/multiple disabilities in order to explore and assess reaction and responsiveness in a semi-structured art therapy setting. The sample was formed by 14 males and 7 females (N=21) between the ages of 7 and 35. All participants attended three twenty-minute individual art therapy sessions which were approximately one week apart. Through direct and indirect (video recordings) observation of the sessions, it appeared that the specific Augmented Reality tool introduced in the art therapy setting was easily accepted by most of the clients involved and generally allowed the development of an interpersonal therapist-client relationship. The present study therefore gave us the opportunity to test new digital tools in the challenging setting of severe/multiple disabilities and observe the huge potential of new media to empower clients to express themselves and their creativity, and ultimately overcome mental and physical barriers. We propose that Augmented Reality tools are particularly well-suited to art therapy and create an equally suitable therapeutic environment to address specific client needs.


Assuntos
Terapia pela Arte/métodos , Pessoas com Deficiência/reabilitação , Deficiência Intelectual/reabilitação , Adolescente , Adulto , Criança , Feminino , Humanos , Pacientes Internados , Itália , Masculino , Adulto Jovem
13.
Psychiatr Danub ; 31(Suppl 3): 534-542, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488787

RESUMO

BACKGROUND: Poland is a democratic, sovereign state in Central Europe, member of the European Union. The healthcare in Poland is delivered to patients mainly through a public contributor called the National Health Fund, supervised by the Ministry of Health. The care for people with disabilities, including intellectual disabilities in Poland is coordinated by the Governmental Program on Activities for People with Disabilities and their Integration with the Society. The system of care for people with intellectual disability in Poland is constitutionally guaranteed. The aim of this review was to analyze the different forms of care for persons suffering from intellectual disability and mental health problems in our country. METHODS: Analysis of available documents on the policy and organizations of systems of services for this group of patients was performed. RESULTS: Non-governmental organizations play an important role in taking care of people with disabilities. In Poland there are no special psychiatric services dedicated for patients with intellectual disabilities. The comorbid psychiatric disorders are treated in general psychiatric wards or hospitals or in outpatient settings. Offenders with intellectual disabilities in the penitentiary system are referred to therapeutic settings in wards for convicts with non-psychotic mental disorders and intellectual disabilities. Training of medical students and young doctors offers only very limited basic knowledge on intellectual disability within psychiatry curriculum. The is no separate specialty in mental health in intellectual disability within psychiatry. CONCLUSIONS: The main conclusion of this review is that the specialist working with persons suffering from intellectual disabilities in Poland face many challenges regarding the need to introduces positive changes in this field.


Assuntos
Deficiência Intelectual , Serviços de Saúde Mental , Saúde Mental , Humanos , Deficiência Intelectual/epidemiologia , Saúde Mental/estatística & dados numéricos , Serviços de Saúde Mental/provisão & distribução , Polônia/epidemiologia
14.
Hum Genet ; 138(10): 1183-1200, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31471722

RESUMO

The glutamate pyruvate transaminase 2 (GPT2) gene produces a nuclear-encoded mitochondrial enzyme that catalyzes the reversible transfer of an amino group from glutamate to pyruvate, generating alanine and alpha-ketoglutarate. Recessive mutations in GPT2 have been recently identified in a new syndrome involving intellectual and developmental disability (IDD), postnatal microcephaly, and spastic paraplegia. We have identified additional families with recessive GPT2 mutations and expanded the phenotype to include small stature. GPT2 loss-of-function mutations were identified in four families, nine patients total, including: a homozygous mutation in one child [c.775T>C (p.C259R)]; compound heterozygous mutations in two siblings [c.812A>C (p.N271T)/c.1432_1433delGT (p.V478Rfs*73)]; a novel homozygous, putative splicing mutation [c.1035C>T (p.G345=)]; and finally, a recurrent mutation, previously identified in a distinct family [c.1210C>T (p.R404*)]. All patients were diagnosed with IDD. A majority of patients had remarkably small stature throughout development, many < 1st percentile for height and weight. Given the potential biological function of GPT2 in cellular growth, this phenotype is strongly suggestive of a newly identified clinical susceptibility. Further, homozygous GPT2 mutations manifested in at least 2 of 176 families with IDD (approximately 1.1%) in a Pakistani cohort, thereby representing a relatively common cause of recessive IDD in this population, with recurrence of the p.R404* mutation in this population. Based on variants in the ExAC database, we estimated that approximately 1 in 248 individuals are carriers of moderately or severely deleterious variants in GPT2.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Genes Recessivos , Predisposição Genética para Doença , Mutação , Fenótipo , Transaminases/genética , Adolescente , Alelos , Substituição de Aminoácidos , Deficiências do Desenvolvimento/metabolismo , Ativação Enzimática , Éxons , Feminino , Frequência do Gene , Estudos de Associação Genética , Genética Populacional , Genótipo , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Imagem por Ressonância Magnética , Masculino , Mitocôndrias/genética , Mitocôndrias/metabolismo , Modelos Moleculares , Linhagem , Conformação Proteica , Sítios de Splice de RNA , Análise de Sequência de DNA , Relação Estrutura-Atividade , Transaminases/química , Transaminases/metabolismo
15.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde, LIS-bvsms | ID: lis-LISBR1.1-46769

RESUMO

Essa mobilização social presta serviços de educação, saúde e assistência social a quem deles necessita, constituindo uma rede de promoção e defesa de direitos das pessoas com deficiência intelectual e múltipla, que hoje conta com cerca de 250 mil pessoas com estes tipos de deficiência.


Assuntos
Criança Excepcional , Deficiência Intelectual
16.
Rev. chil. nutr ; 46(4): 443-450, ago. 2019.
Artigo em Espanhol | LILACS | ID: biblio-1013809

RESUMO

RESUMEN Las enfermedades mentales abarcan un grupo de patologías relacionadas con factores fisiológicos, genéticos, psicológicos, sociales y medioambientales. Dentro de estas enfermedades se encuentran la parálisis cerebral, la discapacidad mental, la enfermedad del espectro autista y el síndrome de Down, las cuales son abordadas en la presente revisión. El abordaje integral del paciente por parte del equipo de salud es imprescindible. Se destaca el rol del nutricionista dietista, ya que su atención oportuna y regular permite evitar el deterioro del estado nutricional, el compromiso de la talla en caso de niños, o adquirir comorbilidades prevenibles en adultos, como sucede cuando está presente una de las complicaciones comunes como el reflujo gastroesofágico y la disfagia, permitiendo mejorar la calidad de vida de pacientes, cuidadores y familia. A pesar de esto, los sistemas de salud sólo autorizan la atención nutricional cada dos o tres meses; adicional a esto, se suman el tiempo prolongado que tardan los trámites para la consulta y las autorizaciones, pudiendo desencadenarse complicaciones que ponen en riesgo la vida del paciente. Se realizó una revisión bibliográfica en bases de datos Scielo, Dialnet, PubMed, para soportar la importancia del papel del nutricionista dietista en todos los estados de las patologías relacionadas con las enfermedades mentales.


ABSTRACT Mental illnesses encompass a group of pathologies concerning physical, genetic, psychological, social and environmental factors. These diseases include cerebral palsy, mental handicap, autism spectrum disorder and Down syndrome, which will be addressed in the present review. A comprehensive approach is essential, which includes the role of the nutritionist-dietitian, since prompt and regular attention allows avoiding the deterioration of nutritional status, compromised length, in the case of children, or acquiring preventable comorbidities in adults, such as gastroesophageal reflux and dysphagia. This approach improves the quality of life of patients, caregivers and families. In spite of this, health systems only authorize nutritional care every two or three months. In addition, there is often prolonged wait times to access treatment and obtain authorization, which may put the patient's life at risk. A systematic review was carried out using Scielo, Dialnet, and Pubmed to support the importance of the role of the nutritionist-dietitian in mental illness conditions.


Assuntos
Humanos , Transtorno Autístico , Avaliação Nutricional , Paralisia Cerebral , Síndrome de Down , Terapia Nutricional , Deficiência Intelectual , Pacientes
17.
Postgrad Med ; 131(7): 445-452, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31443616

RESUMO

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.


Assuntos
Neurofibromatose 1/fisiopatologia , Equipe de Assistência ao Paciente , Esclerose Tuberosa/fisiopatologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Manchas Café com Leite/complicações , Criança , Pré-Escolar , Estudos de Coortes , Dermatologistas , Feminino , Genes da Neurofibromatose 1 , Testes Genéticos , Genética Médica , Grécia , Humanos , Lactente , Deficiência Intelectual/complicações , Transtornos de Aprendizagem/complicações , Masculino , Mosaicismo , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/fisiopatologia , Síndromes Neurocutâneas/terapia , Neurofibroma Plexiforme/complicações , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Neurologistas , Neuropsicologia , Oncologistas , Oftalmologistas , Cirurgiões Ortopédicos , Ambulatório Hospitalar , Pediatras , Radiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/fisiopatologia , Neoplasias Cutâneas/terapia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia
18.
Neuron ; 103(4): 551-553, 2019 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-31437449

RESUMO

Mutations in voltage-dependent sodium channels cause severe autism/intellectual disability. In this issue of Neuron, Spratt et al. (2019) show that lowering expression of Nav1.2 channels attenuates backpropagation of action potentials into dendrites of cortical neurons, preventing spike-timing-dependent synaptic plasticity.


Assuntos
Transtorno Autístico , Deficiência Intelectual , Potenciais de Ação , Dendritos , Humanos , Canal de Sódio Disparado por Voltagem NAV1.2 , Córtex Pré-Frontal
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 826-288, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400138

RESUMO

OBJECTIVE: To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID). METHODS: The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis. RESULTS: G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome. CONCLUSION: Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.


Assuntos
Deficiência Intelectual , Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico , Diagnóstico Pré-Natal , Deleção Cromossômica , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(8): 829-833, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31400139

RESUMO

OBJECTIVE: To explore the genetic basis for a family affected with mental retardation combined with autism. METHODS: For the family featuring X-linked recessive inheritance of mental retardation combined with autism, clinical data and peripheral blood samples were collected. Potential mutations of genes associated with intellectual impairment were sequenced with an Ion PGM platform. Suspected mutations were verified with a PCR-Sanger sequencing method. RESULTS: The patient with mental retardation had mild abnormal electroencephalograph(EEG), while brain MRI and CT scans showed no obvious abnormality. Two ABC (autism behavior checklist) testing scores were 73 and 66 when he was 7- and 13-year-old, respectively. A novel hemizygous mutation, c.64C>T (p.L22F), was detected in the GRIA3 gene in the patient, for which his mother was a heterozygous carrier. The mutation site was predicted to be possibly damaging and disease causing by PolyPhen_2 and MutationTaster. CONCLUSION: The novel hemizygous c.64C>T (p.L22F) mutation of the GRIA3 gene probably underlies the phenotypes of mental retardation combined with autism in this family. Considering the variable clinical manifestation of mental retardation and genetic heterogeneity of autism, genetic testing is essential for making the correct diagnosis.


Assuntos
Transtorno Autístico/genética , Deficiência Intelectual/genética , Retardo Mental Ligado ao Cromossomo X/genética , Receptores de AMPA/genética , Adolescente , Criança , Humanos , Masculino , Mutação
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