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1.
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
2.
Gene ; 761: 145027, 2020 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-32758583

RESUMO

OBJECTIVES: Oliver-McFarlane syndrome (OMCS) is an autosomal recessive inherited disease resulting from PNPLA6 mutations that results in intellectual impairment and profound short stature. To obtain a better understanding of the genotype-phenotype correlations for PNPLA6-related disorders, we reported the 14th OMCS case and summarized all the reported cases of OMCS. METHODS: We collected clinical biochemical and data and brain MRI data and used whole-exon gene detection and analysis tools to evaluate the pathogenicity of the variants, including PolyPhen-2 and Mutation Taster, and we also generated three-dimensional protein structures and visualized the effects of altered residues with I-TASSER and PyMOL Viewer software. RESULTS: The patient presented with trichomegaly and multiple pituitary hormone deficiencies. Brain MRI showed small pituitary and bilateral paraventricular leukomalacia. Novel variants (c.1491G > T and c.3367G > A) in the PNPLA6 gene were detected in the proband and verified by direct sequencing. Amino acid residues of Gln497 and Gly1123 are predicted to be damaging and destroy the three-dimensional protein structures of the protein. In follow-up, this patient could neither walk nor hold his head erect and had not spoken one word at the age of one year and ten months. Moreover, there is no obvious hot spot mutation in any of the reported allelic variants. Interestingly, the majority of mutations are located in the phospholipid esterase domain, which is responsible for esterase activity. CONCLUSIONS: We identified two novel variants of the PNPLA6 gene in an OMCS patient, which will help to better understand the function of PNPLA6 and genotype-phenotype correlations for PNPLA6-related disorders.


Assuntos
Blefaroptose/diagnóstico , Blefaroptose/genética , Nanismo/diagnóstico , Nanismo/genética , Hipertricose/diagnóstico , Hipertricose/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Fosfolipases/genética , Retinite Pigmentosa/diagnóstico , Retinite Pigmentosa/genética , Alelos , China , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Frequência do Gene/genética , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Masculino , Mutação , Fenótipo , Fosfolipases/metabolismo
3.
Nat Commun ; 11(1): 3351, 2020 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-32620897

RESUMO

The sodium-leak channel NALCN forms a subthreshold sodium conductance that controls the resting membrane potentials of neurons. The auxiliary subunits of the channel and their functions in mammals are largely unknown. In this study, we demonstrate that two large proteins UNC80 and UNC79 are subunits of the NALCN complex. UNC80 knockout mice are neonatal lethal. The C-terminus of UNC80 contains a domain that interacts with UNC79 and overcomes a soma-retention signal to achieve dendritic localization. UNC80 lacking this domain, as found in human patients, still supports whole-cell NALCN currents but lacks dendritic localization. Our results establish the subunit composition of the NALCN complex, uncover the inter-subunit interaction domains, reveal the functional significance of regulation of dendritic membrane potential by the sodium-leak channel complex, and provide evidence supporting that genetic variations found in individuals with intellectual disability are the causes for the phenotype observed in patients.


Assuntos
Proteínas de Transporte/genética , Deficiência Intelectual/genética , Canais Iônicos/metabolismo , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Proteínas do Tecido Nervoso/genética , Animais , Proteínas de Transporte/metabolismo , Criança , Análise Mutacional de DNA , Conjuntos de Dados como Assunto , Dendritos/patologia , Modelos Animais de Doenças , Técnicas de Introdução de Genes , Células HEK293 , Hipocampo/citologia , Hipocampo/patologia , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Canais Iônicos/genética , Masculino , Camundongos , Camundongos Knockout , Mutação , Proteínas do Tecido Nervoso/metabolismo , Cultura Primária de Células , Domínios Proteicos/genética , Índice de Gravidade de Doença , Sequenciamento Completo do Exoma
4.
Medicine (Baltimore) ; 99(15): e19751, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32282736

RESUMO

RATIONALE: This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. PATIENT CONCERNS: A 4-year old boy from Guilin City, Guangxi Zhuang Autonomous Region, China, was referred to our clinic for clarification of his diagnosis because he showed moderate intellectual disability. DIAGNOSIS: Two novel compound heterozygous mutations of THOC6, c.664T>C (p.Trp222Arg) and c.945+1 G>A were identified in this patient by whole exome sequencing. The two mutations were evaluated as pathogenic and likely pathogenic respectively according to the American College of Medical Genetics guidelines. This is the first case displaying the BBIS phenotype reported in the Chinese population. These two mutations have not been reported previously. INTERVENTIONS: Symptomatic treatment and rehabilitation training for patients. OUTCOMES: The genetic cause of the disease was identified. The family received scientific genetic counseling. LESSONS: BBIS is a rare syndromic autosomal recessive disease with intellectual disability and it is normally difficult for clinicians to recognize it. Whole exome sequencing is an efficient way to identify the gene which causes a particular disease in patients.


Assuntos
Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Atrofia Muscular/genética , Proteínas de Ligação a RNA/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/reabilitação , Anormalidades Múltiplas/terapia , Grupo com Ancestrais do Continente Asiático/genética , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/reabilitação , Deficiências do Desenvolvimento/terapia , Facies , Aconselhamento Genético/normas , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/reabilitação , Deficiência Intelectual/terapia , Masculino , Atrofia Muscular/diagnóstico , Atrofia Muscular/reabilitação , Atrofia Muscular/terapia , Mutação/genética , Fenótipo , Síndrome , Sequenciamento Completo do Exoma/métodos
5.
Hum Genet ; 139(10): 1247-1259, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32306098

RESUMO

Congenital diarrheal disorders (CDD) comprise > 50 monogenic entities featuring chronic diarrhea of early-onset, including defects in nutrient and electrolyte absorption, enterocyte polarization, enteroendocrine cell differentiation, and epithelial integrity. Diarrhea is also a predominant symptom in many immunodeficiencies, congenital disorders of glycosylation, and in some defects of the vesicular sorting and transporting machinery. We set out to identify the etiology of an intractable diarrhea in 2 consanguineous families by whole-exome sequencing, and identified two novel AP1S1 mutations, c.269T>C (p.Leu90Pro) and c.346G>A (p.Glu116Lys). AP1S1 encodes the small subunit of the adaptor protein 1 complex (AP-1), which plays roles in clathrin coat-assembly and trafficking between trans-Golgi network, endosomes and the plasma membrane. An AP1S1 knock-out (KO) of a CaCo2 intestinal cell line was generated to characterize intestinal AP1S1 deficiency as well as identified mutations by stable expression in KO background. Morphology and prototype transporter protein distribution were comparable between parental and KO cells. We observed altered localization of tight-junction proteins ZO-1 and claudin 3, decreased transepithelial electrical resistance and an increased dextran permeability of the CaCo2-AP1S1-KO monolayer. In addition, lumen formation in 3D cultures of these cells was abnormal. Re-expression of wild-type AP1S1 in CaCo2-AP1S1-KO cells reverted these abnormalities, while expression of AP1S1 containing either missense mutation did not. Our data indicate that loss of AP1S1 function causes an intestinal epithelial barrier defect, and that AP1S1 mutations can cause a non-syndromic form of congenital diarrhea, whereas 2 reported truncating AP1S1 mutations caused MEDNIK syndrome, characterized by mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia.


Assuntos
Complexo 1 de Proteínas Adaptadoras/genética , Subunidades sigma do Complexo de Proteínas Adaptadoras/genética , Surdez/genética , Diarreia/genética , Ictiose/genética , Deficiência Intelectual/genética , Ceratodermia Palmar e Plantar/genética , Mutação de Sentido Incorreto , Complexo 1 de Proteínas Adaptadoras/deficiência , Subunidades sigma do Complexo de Proteínas Adaptadoras/deficiência , Sequência de Bases , Células CACO-2 , Claudina-3/genética , Claudina-3/metabolismo , Consanguinidade , Surdez/diagnóstico , Surdez/metabolismo , Surdez/patologia , Diarreia/diagnóstico , Diarreia/metabolismo , Diarreia/patologia , Feminino , Expressão Gênica , Técnicas de Inativação de Genes , Teste de Complementação Genética , Humanos , Ictiose/diagnóstico , Ictiose/metabolismo , Ictiose/patologia , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/metabolismo , Deficiência Intelectual/patologia , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patologia , Ceratodermia Palmar e Plantar/diagnóstico , Ceratodermia Palmar e Plantar/metabolismo , Ceratodermia Palmar e Plantar/patologia , Linhagem , Permeabilidade , Sequenciamento Completo do Exoma , Proteína da Zônula de Oclusão-1/genética , Proteína da Zônula de Oclusão-1/metabolismo
6.
Medicine (Baltimore) ; 99(16): e19813, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32311999

RESUMO

RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs*10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum. PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus, besides he had congenital heart disease (ventricular septal defects), strabismus, hypotonia, amblyopia, delayed speech and language development, delayed psychomotor development, and amblyopia (HP:0000646) which was not reported before. DIAGNOSIS: FOXL2 gene was cloned and sequenced, however, there was no mutation detected in this patient. The result of Chromosomal microarray analysis was normal. The patient was diagnosed as WDSTS by whole exome sequencing. INTERVENTIONS: The patient received cardiac surgery, frontalis suspension and regular speech and occupational therapy. He also treated with growth hormone (GH). OUTCOMES: The patient's symptoms are improved after cardiac surgery and frontalis suspension, he can express himself well now and had a 10 cm gain in height. LESSONS: As the relationship between genotype and phenotype becomes more and more clear, WES is incredibly powerful tool to diagnose the disease of WDSTS.


Assuntos
Anormalidades Múltiplas/genética , Blefarofimose/diagnóstico , Contratura/genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Cardiopatias Congênitas/diagnóstico , Histona-Lisina N-Metiltransferase/genética , Hipertricose/congênito , Deficiência Intelectual/genética , Microcefalia/genética , Proteína de Leucina Linfoide-Mieloide/genética , Anormalidades da Pele/diagnóstico , Anormalidades Urogenitais/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Grupo com Ancestrais do Continente Asiático/genética , Criança , Contratura/diagnóstico , Contratura/terapia , Erros de Diagnóstico , Facies , Genótipo , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/terapia , Hormônio do Crescimento/uso terapêutico , Cardiopatias Congênitas/cirurgia , Humanos , Hipertricose/diagnóstico , Hipertricose/etiologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Masculino , Microcefalia/diagnóstico , Microcefalia/terapia , Mutação , Fenótipo , Resultado do Tratamento , Sequenciamento Completo do Exoma/métodos
7.
Medicina (B Aires) ; 80 Suppl 2: 26-30, 2020.
Artigo em Espanhol | MEDLINE | ID: mdl-32150709

RESUMO

Advances in genetics have been able to support the clinical suspicion on the large hereditary component of most of these neurodevelopmental disorders (NDD). Initial studies on heritability, linkage or association showed from the beginning the great contribution of genotypic variation to the clinic in general, and to NDD in particular. The effectiveness of genetic studies in clinical practice, targeted to aetiological diagnosis, should not be ignored. Most of these are protocolized in the study of disorders such as intellectual disability and autism; within these, the array comparative genomic hybridization have supported a greater diagnostic effectiveness with respect to historical cytogenetic techniques (3 vs. 10% respectively). However, the irruption and success of molecular genetic sequencing techniques, particularly the exome and genome in trio, analyzing the parents (diagnostic rates of 30-50%), are conditioning the modification of the genetic algorithms in the diagnosis of different NDD. The greater knowledge of causal variants in intellectual disability and autism is also modifying the polygenic theoretical models established to date.


Assuntos
Modelos Genéticos , Transtornos do Neurodesenvolvimento/genética , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Hibridização Genômica Comparativa/métodos , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Sequenciamento Completo do Exoma/métodos
8.
Hum Genet ; 139(4): 531-543, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32030560

RESUMO

We present a comprehensive clinically oriented workflow for large-insert genome sequencing (liGS)-based nucleotide level resolution and interpretation of de novo (dn) apparently balanced chromosomal abnormalities (BCA) in prenatal diagnosis (PND). Retrospective or concomitant with conventional PND and liGS, molecular and newly developed clinically inspired bioinformatic tools (TAD-GConTool and CNV-ConTool) are applied to analyze and assess the functional and phenotypic outcome of dn structural variants (dnSVs). Retrospective analysis of four phenotype-associated dnSVs identified during conventional PND precisely reveal the genomic elements disrupted by the translocation breakpoints. Identification of autosomal dominant disease due to the disruption of ANKS1B and WDR26 by t(12;17)(q23.1;q21.33)dn and t(1;3)(q24.11;p25.3)dn breakpoints, respectively, substantiated the proposed workflow. We then applied this workflow to two ongoing prenatal cases with apparently balanced dnBCAs: 46,XX,t(16;17)(q24;q21.3)dn referred for increased risk on combined first trimester screening and 46,XY,t(2;19)(p13;q13.1)dn referred due to a previous trisomy 21 pregnancy. Translocation breakpoints in the t(16;17) involve ANKRD11 and WNT3 and disruption of ANKRD11 resulted in KBG syndrome confirmed in postnatal follow-up. Breakpoints in the t(2;19) are within ATP6V1B1 and the 3' UTR of CEP89, and are not interpreted to cause disease. Genotype-phenotype correlation confirms the causative role of WDR26 in the Skraban-Deardorff and 1q41q42 microdeletion phenocopy syndromes, and that disruption of ANKS1B causes ANKS1B haploinsufficiency syndrome. In sum, we show that an liGS-based approach can be realized in PND care providing additional information concerning clinical outcomes of dnBCAs in patients with such rearrangements.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Transtornos Cromossômicos , Cromossomos Humanos/genética , Facies , Genes Dominantes , Deficiência Intelectual , Diagnóstico Pré-Natal , Anormalidades Dentárias , Translocação Genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Gravidez , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética , Fluxo de Trabalho
10.
Neurology ; 94(12): e1229-e1240, 2020 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-32094241

RESUMO

OBJECTIVE: To advance the science of cognitive outcome measurement for individuals with intellectual disability (ID), we established administration guidelines and evaluated the psychometric properties of the NIH-Toolbox Cognitive Battery (NIHTB-CB) for use in clinical research. METHODS: We assessed feasibility, test-retest reliability, and convergent validity of the NIHTB-CB (measuring executive function, processing speed, memory, and language) by assessing 242 individuals with fragile X syndrome (FXS), Down syndrome (DS), and other ID, ages 6 through 25 years, with retesting completed after 1 month. To facilitate accessibility and measurement accuracy, we developed accommodations and standard assessment guidelines, documented in an e-manual. Finally, we assessed the sensitivity of the battery to expected syndrome-specific cognitive phenotypes. RESULTS: Above a mental age of 5.0 years, all tests had excellent feasibility. More varied feasibility across tests was seen between mental ages of 3 and 4 years. Reliability and convergent validity ranged from moderate to strong. Each test and the Crystallized and Fluid Composite scores correlated moderately to strongly with IQ, and the Crystallized Composite had modest correlations with adaptive behavior. The NIHTB-CB showed known-groups validity by detecting expected executive function deficits in FXS and a receptive language deficit in DS. CONCLUSION: The NIHTB-CB is a reliable and valid test battery for children and young adults with ID with a mental age of ≈5 years and above. Adaptations for very low-functioning or younger children with ID are needed for some subtests to expand the developmental range of the battery. Studies examining sensitivity to developmental and treatment changes are now warranted.


Assuntos
Deficiência Intelectual/diagnóstico , Testes Neuropsicológicos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , National Institutes of Health (U.S.) , Psicometria , Reprodutibilidade dos Testes , Estados Unidos , Adulto Jovem
11.
Curr Psychiatry Rep ; 22(2): 9, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-32008108

RESUMO

PURPOSE OF REVIEW: Although treatment algorithms and parameters for best practice are readily available for all major syndromes of psychiatric impairment, the occurrence of psychiatric syndromes in individuals with intellectual and developmental disability (IDD) invokes serious contextual challenges for interpretation of symptoms, diagnosis, and optimization of treatment, both for clinicians and for the service sectors in which care and support of individuals with IDD are delivered. Recognizing that there exist very few definitive resources for best practice under the circumstance of this form of "dual diagnosis," the Missouri Department of Mental Health convened an expert panel to conduct a focused review and synthesis of the relevant scientific literature from which to develop guidance in the form of decision support to clinicians. This article summarizes the findings for three of the most common and impairing clusters of psychiatric symptoms that co-occur with IDD-aggression, depression, and addictions. RECENT FINDINGS: Individuals with IDD are at high risk for the development of psychiatric symptoms (PS), which often manifest uniquely in IDD and for which evidence for effective intervention is steadily accruing. Interventions that are commonly implemented in the IDD service sector (e.g., functional communication training and positive behavioral support planning) are capable of mitigating severe behavioral impairment, yet rarely invoked when dual diagnosis patients are seen in the psychiatric service sector. Conversely, state-of-the-art interventions for traumatic stress, pharmacotherapy, and psychotherapy have proven capable of improving behavioral impairments in IDD but are typically restricted to the psychiatric service sector, where there exist significant barriers to access for patients with IDD, including limitations imposed by diagnostic eligibility and practitioner experience. Bridging these gaps in knowledge and clinical capacity across the respective IDD and PS service sectors should be of very high priority in strategizing the care and support of IDD patients with serious co-occurring psychiatric conditions.


Assuntos
Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/diagnóstico , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Transtornos Mentais/complicações , Transtornos Mentais/diagnóstico , Deficiências do Desenvolvimento/terapia , Humanos , Deficiência Intelectual/terapia , Transtornos Mentais/terapia
13.
Rev. inf. cient ; 99(1): 30-37, ene.-feb. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1093927

RESUMO

RESUMEN Introducción: El tránsito de la familia por las etapas de ciclo vital tiene eventos que dinamizan la funcionabilidad familiar, tener un hijo diagnosticado con discapacidad intelectual irrumpe la dinámica. Objetivo: Diagnosticar la salud del familiar donde convive un discapacitado intelectual perteneciente a la Escuela Especial "José Antonio Echavarría" del municipio Guantánamo. Método: Se realizó un estudio descriptivo de corte transversal cuanticualitativo, en 45 familias de la Escuela Especial "José Antonio Echavarría" del municipio Guantánamo. Se utilizó el modelo teórico-metodológico de evaluación de la salud familiar que incluyó como instrumentos de evaluación, la prueba de percepción del funcionamiento familiar, inventario de características familiares de riesgo y la matriz familiar. Resultados: Según la ontogénesis de las familias predominaron las ampliadas para un 65,3 %, por la composición y estructura, las medianas, y por el número de generaciones, trigeneracional, para un 45,36 %. Las crisis paranormativas estaban presentes en 66,6 % de las familias al presentar desmembramiento, el 39,8 % por desmoralización, sólo el 4,4 % de las familias fue funcional. Según características familiares de riesgo las variables que más prevalecieron fueron procesos críticos normativos con un 95,5 %, procesos críticos de salud y procesos críticos paranormativos para un 100 %. El cruzamiento de los resultados dió lugar a la matriz de salud familiar. Conclusiones: Se reveló que es más frecuente la presencia de un niño discapacitado en familias disfuncionales, que de manera más común no satisfacen sus funciones.


ABSTRACT Introduction: The family's transit through the stages of the life cycle has events that boost family functionality, having a child diagnosed with intellectual disability breaks the dynamic. Objective: To diagnose the health of the family member where an intellectual disabled person belonging to the Special School "José Antonio Echavarría" of the Guantánamo municipality lives. Method: A descriptive study of a quantitative cross-sectional study was carried out in 45 families of the "José Antonio Echavarría" Special School of the Guantánamo municipality. The theoretical-methodological model of family health evaluation was used, which included as evaluation instruments, the proof of perception of family functioning, inventory of family risk characteristics and the family matrix. Results: According to the ontogenesis of the families, the ones extended by 65.3% predominated, by the composition and structure, the medium ones, and by the number of three-generational generations, for 45.36%. The paranormative crises were present in 66.6% of the families when presenting dismemberment, 39.8% due to demoralization, only 4.4% of the families were functional. According to family risk characteristics, the variables that prevailed most were critical regulatory processes with 95.5%, critical health processes and paranormal regulatory processes for 100%. The crossing of the results gave rise to the family health matrix. Conclusions: It was revealed that the presence of a disabled child is more frequent in dysfunctional families, which more commonly do not fulfill their functions.


RESUMO Introdução: O trânsito da família pelas etapas do ciclo de vida tem eventos que aumentam a funcionalidade da família, tendo um filho com diagnóstico de deficiência intelectual rompe a dinâmica. Objetivo: Diagnosticar a saúde do familiar onde mora uma pessoa com deficiência intelectual pertencente à Escola Especial "José Antonio Echavarría", do município de Guantánamo. Método: Foi realizado um estudo descritivo de um estudo transversal quantitativo em 45 famílias da Escola Especial "José Antonio Echavarría" do município de Guantánamo. Utilizou-se o modelo teórico-metodológico de avaliação em saúde da família, que incluiu como instrumentos de avaliação, a prova de percepção do funcionamento da família, inventário das características de risco familiar e matriz familiar. Resultados: De acordo com a ontogênese das famílias, as ampliadas em 65,3% predominaram, pela composição e estrutura, as médias e pelo número de três gerações geracionais, para 45,36%. As crises paranormativas estavam presentes em 66,6% das famílias quando apresentavam desmembramento, 39,8% devido à desmoralização, apenas 4,4% das famílias eram funcionais. De acordo com as características de risco familiar, as variáveis que mais prevaleceram foram processos regulatórios críticos com 95,5%, processos críticos de saúde e processos reguladores paranormais para 100%. O cruzamento dos resultados deu origem à matriz de saúde da família. Conclusões: Foi revelado que a presença de uma criança com deficiência é mais frequente em famílias disfuncionais, que mais comumente não cumprem suas funções.


Assuntos
Humanos , Saúde da Família , Crianças com Deficiência , Deficiência Intelectual/diagnóstico , Epidemiologia Descritiva , Estudos Transversais
16.
J Genet ; 992020.
Artigo em Inglês | MEDLINE | ID: mdl-32089525

RESUMO

The CGG repeats in the FMR1 gene expand in patients with fragile X syndrome, fragile X-associated tremour/ataxia syndrome and fragile X-associated primary ovarian failure. In this study, the CGG repeats in the FMR1 gene were studied in 449 males and 207 females using traditional polymerase chain reaction and triplet repeat primed PCR methods, also 18 CVS samples (six males and 12 females) were tested for prenatal diagnosis. Further, methylation sensitive multiplexed ligation dependent probe amplification was performed on some samples to confirm the results. Regarding the male patients, 1.1% and 9.7% had premutation (PM) and full mutation (FM) alleles, respectively. Also three (0.66%) male patients were mosaic for PM and FM alleles. Among females, 1.9% were GZ carriers and 5.8% were PM carriers. Prenatal diagnosis resulted in detection of two PM and one FM males as well as one FM carrier female. Our results were in concordance with the previously published results.


Assuntos
Proteína do X Frágil de Retardo Mental/genética , Síndrome do Cromossomo X Frágil/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Deficiência Intelectual/genética , Insuficiência Ovariana Primária/genética , Repetições de Trinucleotídeos , Alelos , Feminino , Síndrome do Cromossomo X Frágil/diagnóstico , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Tipagem de Sequências Multilocus , Insuficiência Ovariana Primária/diagnóstico
17.
Pediatrics ; 145(2)2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31924688

RESUMO

BACKGROUND AND OBJECTIVES: Children born extremely preterm (EP) (<26 weeks' gestation) have lower cognitive scores and an increased rate of cognitive impairment compared with their term-born peers. However, the neuropsychological presentation of these EP individuals in adulthood has not been described. The aim of this study was to examine neuropsychological outcomes in early adulthood after EP birth in the 1995 EPICure cohort and to investigate if the rate of intellectual impairment changed longitudinally. METHODS: A total of 127 young adults born EP and 64 term-born controls had a neuropsychological assessment at 19 years of age examining general cognitive abilities (IQ), visuomotor abilities, prospective memory, and aspects of executive functions and language. RESULTS: Adults born EP scored significantly lower than term-born controls across all neuropsychological tests with effect sizes (Cohen's d) of 0.7 to 1.2. Sixty percent of adults born EP had impairment in at least 1 neuropsychological domain; deficits in general cognitive functioning and visuomotor abilities were most frequent. The proportion of EP participants with an intellectual impairment (IQ <70) increased by 6.7% between 11 and 19 years of age (P = .02). Visuospatial functioning in childhood predicted visuomotor functioning at 19 years. CONCLUSIONS: Adults born EP continue to perform lower than their term-born peers in general cognitive abilities as well as across a range of neuropsychological functions, indicating that these young adults do not show improvement overtime. The prevalence of intellectual impairment increased from 11 years into adulthood.


Assuntos
Disfunção Cognitiva/diagnóstico , Lactente Extremamente Prematuro/psicologia , Transtornos das Habilidades Motoras/diagnóstico , Adolescente , Estudos de Casos e Controles , Criança , Cognição , Disfunção Cognitiva/epidemiologia , Estudos de Coortes , Função Executiva , Feminino , Humanos , Recém-Nascido , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Idioma , Masculino , Memória Episódica , Transtornos das Habilidades Motoras/epidemiologia , Testes Neuropsicológicos , Pacientes Desistentes do Tratamento , Prevalência , Fatores Sexuais , Percepção Visual/fisiologia , Escalas de Wechsler , Adulto Jovem
19.
J Autism Dev Disord ; 50(4): 1443-1450, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31955311

RESUMO

It is well-recognized that measurement options for diagnosing and monitoring children with neurogenetic syndromes (NGS) associated with moderate to severe intellectual impairment are limited (Berry-Kravis, Dev Med Child Neurol https://doi.org/10.1111/dmcn.13018, 2016), and caregivers experience significant concerns regarding the assessment process. However to date, these concerns have not been summarized into actionable steps for clinicians and test-makers. As such, we used a mixed methods approach to assess caregiver-derived perceptions and suggestions for improving assessments in NGS. Results indicated many shared challenges and suggestions for improvement, particularly in the domains of testing procedures and examiner communication. Integrating these suggestions into future protocols is an important next step toward improving the quality of assessment procedures for children with NGS and their families across both clinical and research contexts.


Assuntos
Cuidadores/psicologia , Deficiência Intelectual/diagnóstico , Testes Neuropsicológicos/normas , Percepção , Melhoria de Qualidade , Atitude , Criança , Feminino , Humanos , Deficiência Intelectual/genética , Masculino
20.
J Autism Dev Disord ; 50(4): 1210-1220, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31897854

RESUMO

Irritability and aggression (IA) are highly prevalent in individuals with autism spectrum disorder (ASD). Although clinical correlates of IA in this population have been previously examined, findings from existing studies capturing symptoms as a set of latent variables do not fully explain meaningful associations between the symptoms themselves. In the present study, we conducted network analysis which conceptualizes mental health difficulties as a complex network of directly associated symptoms in 2612 individuals who were diagnosed with ASD through rigorous diagnostic assessment and who were enrolled in the Simons Simplex Collection. Using the Aberrant Behavior Checklist, a validated scale, we investigated the network structure of IA and tried to identify bridge symptoms that link IA and other symptom domains. In our analysis, irritability symptoms had stronger and more direct associations with other nodes than aggression symptoms did. Additionally, depressed mood and oppositionality were identified to function as bridge symptoms. The network structures did not differ between individuals with and without intellectual disability. Our findings indicate that addressing these bridge symptoms through integrated care combining different modalities of treatment could ease the complicated symptom network and thereby reduce IA symptoms in individuals with ASD.


Assuntos
Agressão/fisiologia , Agressão/psicologia , Transtorno do Espectro Autista/psicologia , Humor Irritável/fisiologia , Adolescente , Transtorno do Espectro Autista/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/psicologia , Masculino
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