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1.
J Clin Pediatr Dent ; 44(4): 221-227, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-33167023

RESUMO

Dental treatment for anxious or fearful intellectually disabled children/adolescents (IDCA) may present great challenges, due to deficits in cognitive, intellectual, language, and social abilities, in conjunction with limited adaptive behavior. In many cases, it is necessary for the Dentist to implement advanced behavioral control techniques. Inclusive Dentistry (ID) considers profoundly each patient's individual interests and likes, including the social and family situations, for choosing the respective personalized plan -contemplating potential risks and benefits- for the behavior control, in order to obtain the maximal possible cooperation of the patient in the dental chair. Through ID, the Pediatric Dental Practitioner aims to alleviate the anxiety and fear of IDCA in the clinical setting, in such a way that these patients are positively motivated, on a long-term basis, for current and future oral care, both at the dental office and at home. This management approach may be a time-consuming method or require more effort by the dentist, but it reaps benefits when applied for many mild-to-moderate (and some severe) IDCA. The Practitioner must possess the knowledge, in-depth understanding, and professional training for the adequate use of ID during the behavioral management of anxious or fearful IDCA. The aim of the present report was to describe four representative clinical cases of IDCA at our Clinic, managed under the philosophical principles of ID.


Assuntos
Deficiência Intelectual , Adolescente , Criança , Odontologia , Odontólogos , Medo , Humanos , Deficiência Intelectual/terapia , Odontopediatria , Papel Profissional
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(11): 1253-1256, 2020 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-33179233

RESUMO

OBJECTIVE: To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing. METHODS: Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing. RESULTS: The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function. CONCLUSION: The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.


Assuntos
Hiperventilação/genética , Deficiência Intelectual/genética , Fator de Transcrição 4/genética , Facies , Testes Genéticos , Humanos , Masculino
3.
Medicine (Baltimore) ; 99(45): e23033, 2020 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-33157955

RESUMO

INTRODUCTION: Microdeletion syndromes occur from deletion of 5Mb of a chromosome in approximately 5% of patients with unexplained intellectual disability. Interstitial microdeletions at bands 1p33 and 1p32.2 of the short arm of chromosome 1 are rare and have not been previously reported in relation to disease. PATIENT CONCERNS: We present a case of a 39-month boy with Pierre Robin sequence, development delay/intellectual disability, growth retardation, short stature, leukoencephalopathy, craniofacial dysplasia, and speech delay. The child was referred to the Child health care department in October 2014 for his delayed language development and aggravated aggression. DIAGNOSIS: Molecular diagnostic testing with G-band karyotyping was normal but clinical microarray analysis detected a 10 Mb microdeletion at 1p33p32.2. INTERVENTIONS: The patient received rehabilitation. OUTCOMES: Three candidate genes were pinpointed to the deleted area, including ORC1, SCP2, and DAB1. Phenotype-genotype analysis suggested that these three genes are likely to be responsible for the main phenotypes observed in the patient, such as microcephaly, growth retardation, short stature, leukoencephalopathy, and development delay/intellectual disability. CONCLUSIONS: The spectrum of phenotypes this case presented with are likely to be caused by 1p33p32.2 deletion which could represent a new microdeletion syndrome.


Assuntos
Cariotipagem/métodos , Análise em Microsséries/métodos , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Adulto , Proteínas de Transporte/genética , Criança , Pré-Escolar , Deleção Cromossômica , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Nanismo/diagnóstico , Nanismo/genética , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/genética , Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Masculino , Microcefalia/diagnóstico , Microcefalia/genética , Proteínas do Tecido Nervoso/genética , Complexo de Reconhecimento de Origem/genética , Fenótipo , Síndrome de Pierre Robin/reabilitação
4.
Nat Commun ; 11(1): 5469, 2020 10 29.
Artigo em Inglês | MEDLINE | ID: mdl-33122634

RESUMO

Zbtb11 is a conserved transcription factor mutated in families with hereditary intellectual disability. Its precise molecular and cellular functions are currently unknown, precluding our understanding of the aetiology of this disease. Using a combination of functional genomics, genetic and biochemical approaches, here we show that Zbtb11 plays essential roles in maintaining the homeostasis of mitochondrial function. Mechanistically, we find Zbtb11 facilitates the recruitment of nuclear respiratory factor 2 (NRF-2) to its target promoters, activating a subset of nuclear genes with roles in the biogenesis of respiratory complex I and the mitoribosome. Genetic inactivation of Zbtb11 resulted in a severe complex I assembly defect, impaired mitochondrial respiration, mitochondrial depolarisation, and ultimately proliferation arrest and cell death. Experimental modelling of the pathogenic human mutations showed these have a destabilising effect on the protein, resulting in reduced Zbtb11 dosage, downregulation of its target genes, and impaired complex I biogenesis. Our study establishes Zbtb11 as an essential mitochondrial regulator, improves our understanding of the transcriptional mechanisms of nuclear control over mitochondria, and may help to understand the aetiology of Zbtb11-associated intellectual disability.


Assuntos
Fator de Transcrição de Proteínas de Ligação GA/metabolismo , Deficiência Intelectual/genética , Mitocôndrias/metabolismo , Dedos de Zinco/genética , Animais , Linhagem Celular , DNA Mitocondrial , Complexo I de Transporte de Elétrons/biossíntese , Complexo I de Transporte de Elétrons/metabolismo , Regulação da Expressão Gênica , Técnicas de Inativação de Genes , Humanos , Deficiência Intelectual/etiologia , Camundongos , Mutação/genética , Regiões Promotoras Genéticas , Proteínas Repressoras/genética
7.
Intellect Dev Disabil ; 58(5): 355-360, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-33032314

RESUMO

The COVID-19 epidemic caused disruption and dislocation in the lives of people with disabilities, their families, and providers. What we have learned during this period regarding the strengths and weaknesses of the service system for people with disabilities should provide a roadmap for building a more robust and agile system going forward. Based on a canvas of leaders in our field, I propose a way of outlining a reimagined system.


Assuntos
Betacoronavirus , Infecções por Coronavirus/prevenção & controle , Deficiências do Desenvolvimento/reabilitação , Serviços de Saúde/tendências , Deficiência Intelectual/reabilitação , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/psicologia , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/psicologia , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/psicologia , Pneumonia Viral/epidemiologia , Pneumonia Viral/psicologia
8.
Medicine (Baltimore) ; 99(42): e22740, 2020 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-33080735

RESUMO

Prolonged heart rate-corrected QT (QTc) interval is an independent risk factor for sudden cardiac death, which is the hallmark of Timothy syndrome (TS). There are little data on children with syndactyly and QTc prolongation.To evaluate the characteristics and long-term outcomes in children with syndactyly, and to attempt to identify TS in patients with syndactyly and QTc prolongation.This is a retrospective case-control study of children with syndactyly who visited Beijing Jishuitan Hospital between July 2003 and February 2013. The patients with prolonged QTc intervals are matched 1:4 with patients without prolongation. Genetic testing of the CACNA1C gene is routinely performed in patients with QTc prolongation.The mean age at admission is 3.4 ±â€Š2.3 years. Compared with the normal QTc group, those with QTc prolongation showed higher frequencies of congenital heart disease (11.8% vs 1.5%, P = .042), mental retardation and facial dysmorphia (11.8% vs 0, P = .004), and T wave alternans (23.5% vs 4.4%, P = .01). In the multivariable analysis, only T wave alternans (OR = 10.61, 95%CI: 1.39-81.16, P = .023) is independently associated with QTc prolongation in patients with syndactyly. One child with QTc prolongation had a mutation in the CACNA1C gene. No patients with prolonged QTs interval met the threshold for TS.Children with syndactyly and prolonged QTc interval had more multisystem diseases and electrocardiography abnormalities. T wave alternans is independently associated with QTc prolongation in patients with syndactyly.


Assuntos
Síndrome do QT Longo/epidemiologia , Sindactilia/epidemiologia , Canais de Cálcio Tipo L/genética , Estudos de Casos e Controles , Pré-Escolar , China/epidemiologia , Anormalidades Craniofaciais/epidemiologia , Eletrocardiografia , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Deficiência Intelectual/epidemiologia , Masculino , Análise Multivariada , Mutação , Estudos Retrospectivos
9.
Medicine (Baltimore) ; 99(40): e22496, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019446

RESUMO

RATIONALE: 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality with incomplete penetrance and phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 15q11.2 microdeletion are rare. PATIENT CONCERNS: A 30-year-old woman was referred for genetic counseling and prenatal diagnosis at 19 weeks of gestation because of increased nuchal translucency in prenatal ultrasound findings and a history of spontaneous abortion. DIAGNOSES: The cytogenetic analysis showed the karyotype of the fetus was 46,XY, inv(4)(p15q31) and chromosomal microarray analysis detected a 0.512 Mb deletion in 15q11.2 region. We recalled the parents to determine the origination of these chromosomal abnormalities. INTERVENTIONS: The pregnant woman chose to continue the pregnancies and finally delivered a healthy male infant at 39 weeks. OUTCOMES: The fetus inherited the inv(4)(p15q31) from his mother while the deletion in 15q11.2 was identified as de novo. Given the normal phenotype of the mother, it was reasonable to assume that the maternal inherited inv(4) in the fetus would not increase the risk of his abnormal phenotype. However, the pathogenicity of the microdeletion in 15q11.2 for the infant is unknown and long-term follow-up of progeny should be paid more attention. LESSONS: The combined application of traditional banding technique and molecular cytogenetic techniques can not only detect chromosomal structural abnormalities, but also identify the subchromosomal imbalances, which is beneficial to genetic counselling and would offer more guidance to prenatal diagnosis.


Assuntos
Deficiência Intelectual/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Feminino , Aconselhamento Genético , Humanos , Cariotipagem , Medição da Translucência Nucal , Gravidez
10.
Rev Med Liege ; 75(10): 686-691, 2020 Oct.
Artigo em Francês | MEDLINE | ID: mdl-33030847

RESUMO

Global developmental delay (GDD) and intellectual development disorder (IDD) are common but heterogeneous pediatric conditions. Guided by a rigorous clinical and anamnestic examination, the diagnostic approach is a dynamic process which is not limited to the intelligence quotient measurement. A large panel of paraclinical tests allows etiological exploration; this generally includes biological, genetic, metabolic and iconographic examinations. To maximize therapeutic efficiency and standardize practices, this document provides a guideline for the management of pediatric GDD/IDD.


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Criança , Cognição , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Família , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/etiologia
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(10): 1128-1131, 2020 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-32924117

RESUMO

OBJECTIVE: To analyze the clinical characteristics and genetic variation in a child with acrodysostosis type 2. METHODS: The child has undergone history taking and physical examination. Genome DNA was extracted from peripheral blood samples from him and his parents. High-throughput sequencing was carried out. The result was verified by Sanger sequencing. RESULTS: The 8-year-old boy presented with midface hypoplasia, hypertelorism, prominent nasal bridge, small and upturned nostrils, broad thumb and great toes, and brachydactyly of remaining fingers and toes. Genetic testing revealed that the child has carried a heterozygous c.1813T>C (p.Tyr605His) missense mutation of the PDE4D gene. The same mutation was not found in either parent and was unreported previously. CONCLUSION: The child was diagnosed with acrodysostosis type 2 due to the novel mutation of the PDE4D gene.


Assuntos
Nucleotídeo Cíclico Fosfodiesterase do Tipo 4/genética , Disostoses/genética , Deficiência Intelectual/genética , Osteocondrodisplasias/genética , Criança , Testes Genéticos , Humanos , Masculino , Mutação de Sentido Incorreto
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(10): 1154-1157, 2020 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-32924124

RESUMO

OBJECTIVE: To explore the genetic basis for a child with mental retardation. METHODS: The child was subjected to next generation sequencing (NGS). Candidate variant was analyzed with bioinformatic software. RESULTS: NGS revealed that the child has carried a de novo heterozygous c.4035G>C (p.Gln1345His) variant of the ARID1B gene. The variant was unreported previously and may cause instability of the protein structure. CONCLUSION: The de novo missense variant of ARID1B gene may underlie the mental retardation in the child. Above result has enabled genetic counseling and prenatal diagnosis for her family.


Assuntos
Proteínas de Ligação a DNA/genética , Deficiência Intelectual , Mutação de Sentido Incorreto , Fatores de Transcrição/genética , Criança , Feminino , Heterozigoto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Deficiência Intelectual/genética
13.
Medicine (Baltimore) ; 99(33): e21632, 2020 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-32872024

RESUMO

INTRODUCTION: The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia, specific facial features, and intellectual disability, is produced by different mutations in the OPHN1 gene. PATIENT CONCERNS: In this report, we present the clinical and molecular findings of a family affected by a mild XLID due to a deletion in the OPHN1 gene, exon 21, Xq12 region using Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The clinical features present in the family are a mild developmental delay, behavioral disturbances, facial dysmorphism, pes planus, nystagmus, strabismus, epilepsy, and occipital arachnoid cyst. INTERVENTIONS: The MLPA analysis was performed for investigation of the copy number variations within the X chromosome for the family. DIAGNOSIS AND OUTCOME: The MLPA analysis detected a deletion in the OPHN1 gene, exon 21 for the proband, and a heterozygous deletion for the probands mother. The deletion of the Xq12 region of maternal origin, including the exon 21 of the OPHN1 gene, confirmed for the probands nephew. LESSONS: Our findings emphasize the utility of the MLPA analysis to identify deletions in the OPHN1 gene responsible for syndromic XLID. Therefore, we suggest that MLPA analysis should be performed as an alternative diagnostic test for all patients with a mild intellectual disability associated or not with behavioral disturbances, facial dysmorphism, and brain anomalies.


Assuntos
Proteínas do Citoesqueleto/genética , Proteínas Ativadoras de GTPase/genética , Deficiência Intelectual/genética , Proteínas Nucleares/genética , Adolescente , Éxons , Deleção de Genes , Humanos , Masculino
14.
Rev Med Suisse ; 16(708): 1790-1795, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997448

RESUMO

Medical care of adults with disabilities, especially those with intellectual disabilities, can be ethically difficult. Several questions arise frequently. Can we administer a life-saving treatment that could impact negatively the patient's quality of life when the patient isn't able to give consent? During this Covid-19 period, can the use of chemical or physical restraints be considered as mistreatment, whereas the aim is to protect others? These are situations where the ethical question holds a central role. Although each clinical situation is unique, this article highlights, through four clinical cases, the ethical principles that should guide physicians in their decision-making process.


Assuntos
Tomada de Decisão Clínica/ética , Infecções por Coronavirus/psicologia , Infecções por Coronavirus/terapia , Pessoas com Deficiência , Deficiência Intelectual , Pneumonia Viral/psicologia , Pneumonia Viral/terapia , Qualidade de Vida , Adulto , Infecções por Coronavirus/epidemiologia , Humanos , Consentimento Livre e Esclarecido/ética , Pandemias , Pneumonia Viral/epidemiologia , Restrição Física/ética
15.
J Appl Res Intellect Disabil ; 33(6): 1523-1533, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32885897

RESUMO

INTRODUCTION: The measures implemented to manage the COVID-19 pandemic have been shown to impair mental health. This problem is likely to be exacerbated for carers. METHOD: Informal carers (mainly parents) of children and adults with intellectual disabilities, and a comparison group of parents of children without disabilities, completed an online questionnaire. Almost all the data were collected while strict lockdown conditions were in place. RESULTS: Relative to carers of children without intellectual disability, carers of both children and adults with intellectual disability had significantly greater levels of a wish fulfilment coping style, defeat/entrapment, anxiety, and depression. Differences were 2-3 times greater than reported in earlier pre-pandemic studies. Positive correlations were found between objective stress scores and all mental health outcomes. Despite their greater mental health needs, carers of those with intellectual disability received less social support from a variety of sources. CONCLUSIONS: The greater mental health needs of carers in the context of lesser social support raises serious concerns. We consider the policy implications of these findings.


Assuntos
Adaptação Psicológica , Cuidadores/psicologia , Infecções por Coronavirus , Deficiência Intelectual/psicologia , Saúde Mental/estatística & dados numéricos , Pandemias , Pneumonia Viral , Isolamento Social/psicologia , Estresse Psicológico , Adulto , Betacoronavirus , Criança , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Infecções por Coronavirus/psicologia , Feminino , Necessidades e Demandas de Serviços de Saúde , Humanos , Masculino , Pandemias/prevenção & controle , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Pneumonia Viral/psicologia , Sistemas de Apoio Psicossocial , Pesquisa Qualitativa , Apoio Social , Inquéritos e Questionários , Reino Unido/epidemiologia
16.
Rev Med Suisse ; 16(708): 1786-1789, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997447

RESUMO

Behavioral disorders in people with developmental and intellectual disability are frequent but their management is rarely taught. This article is to help primary physicians prescribe drug treatment. We will also discuss the key elements of two of the most commonly used classes of drugs, taking into account the patient's co-morbidities, contraindications and the main side effects.


Assuntos
Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/psicologia , Comportamento Problema/psicologia , Comorbidade , Humanos , Deficiência Intelectual/complicações
17.
Rev Med Suisse ; 16(708): 1796-1800, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997449

RESUMO

Behavioural disorders in adults with mental disabilities are very common and represent a diagnostic challenge. In fact, they often hide a somatic problem, which is more frequent in this population compared to the general population. These somatic symptoms may cause or enhance psychiatric symptoms. People with mental disabilities often have difficulties expressing their pain, which often manifests itself as mood changes. Consequently, it is important to be able to identify the pain as a priority and to treat it. The general practitioner should therefore check for the most common somatic complaints in people with mental disabilities, with the help of the acronym DODUGO (Dental, Otic, Digestive, UroGenital, Orthopaedic).


Assuntos
Deficiência Intelectual , Sintomas Inexplicáveis , Comportamento Problema , Adulto , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Dor/complicações , Dor/diagnóstico , Dor/psicologia , Transtornos da Personalidade/complicações , Transtornos da Personalidade/diagnóstico , Transtornos da Personalidade/psicologia
18.
Rev Med Suisse ; 16(708): 1807-1810, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997451

RESUMO

It is estimated that about 1 712 000 people are suffering from disability in Switzerland, and that 1 to 3% of them present a severe form of disability associated with intellectual deficiency. Management of such patients is complex and faces various challenges. Communication and collaboration with the patients and among all stakeholders are key. In this review, we highlight the value of creating a network supporting people with disabilities. We also present the network available for in- and outpatients in Geneva, which offers consultations and training courses for healthcare workers, and encourages coordination between institutions and network collaboration.


Assuntos
Pessoas com Deficiência , Deficiência Intelectual , Adulto , Pessoal de Saúde , Humanos , Comportamento Social , Suíça
19.
Rev Med Suisse ; 16(708): 1811-1816, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997452

RESUMO

Patients suffering from intellectual and developmental disabilities are vulnerable and often polymorbid. The neurosensory disorders that hinder communication and the multitude of caregivers working with them are main causes for the complexity of their care. In order to avoid fragmentation of care and to ensure optimal quality, the primary care physician should be able to show leadership and coordinate care to limit risky interventions and hospitalizations.


Assuntos
Deficiências do Desenvolvimento , Clínicos Gerais , Deficiência Intelectual , Papel do Médico , Cuidadores , Comunicação , Deficiências do Desenvolvimento/complicações , Hospitalização , Humanos , Deficiência Intelectual/complicações
20.
Int Heart J ; 61(5): 1049-1055, 2020 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-32921676

RESUMO

While a KCND3 V392I mutation uniquely displays a mixed electrophysiological phenotype of Kv4.3, only limited clinical information on the mutation carriers is available. We report two teenage siblings exhibiting both cardiac (early repolarization syndrome and paroxysmal atrial fibrillation) and cerebral phenotypes (epilepsy and intellectual disability), in whom we identified the KCND3 V392I mutation. We propose a link between the KCND3 mutation with a mixed electrophysiological phenotype and cardiocerebral phenotypes, which may be defined as a novel cardiocerebral channelopathy.


Assuntos
Fibrilação Atrial/genética , Canalopatias/genética , Epilepsias Parciais/genética , Deficiência Intelectual/genética , Canais de Potássio Shal/genética , Adolescente , Morte Súbita Cardíaca , Eletrocardiografia , Eletroencefalografia , Feminino , Humanos , Pessoa de Meia-Idade , Mães , Mutação , Linhagem , Irmãos , Síncope/genética , Adulto Jovem
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