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1.
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
2.
Nat Commun ; 10(1): 2985, 2019 07 05.
Artigo em Inglês | MEDLINE | ID: mdl-31278258

RESUMO

Mosaic genetic variants can have major clinical impact. We systematically analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosaicism (PZM) in the child or a clinically-unaffected parent, and use ultrahigh-depth sequencing to validate candidate mosaic variants. We observe that levels of mosaicism for small genetic variants are usually equivalent in both saliva and blood and ~3% of causative de novo mutations exhibit PZM; this is an important observation, as the sibling recurrence risk is extremely low. We identify parental PZM in 21 trios (0.5% of trios), resulting in a substantially increased sibling recurrence risk in future pregnancies. Together, these forms of mosaicism account for 40 (1%) diagnoses in our cohort. Likely child-PZM mutations occur equally on both parental haplotypes, and the penetrance of detectable mosaic pathogenic variants overall is likely to be less than half that of constitutive variants.


Assuntos
Deficiências do Desenvolvimento/genética , Exoma/genética , Mosaicismo , Sequenciamento Completo do Exoma/métodos , Criança , Estudos de Coortes , Deficiências do Desenvolvimento/diagnóstico , Feminino , Testes Genéticos/métodos , Variação Genética , Haplótipos/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Herança Materna/genética , Pais , Herança Paterna/genética
3.
Hum Genet ; 138(10): 1145-1153, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31321490

RESUMO

The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. Local database search yielded eight new patients with 13q33.1-q34 microdeletions (three of which had additional copy number variants). Combined with 15 cases detected by literature search, an additional 23 cases were reported in DECIPHER database, and 17 cases from ClinVar, so overall 60 patients with isolated 13q33.1-q34 microdeletions were described. Developmental delay and/or intellectual disability were noted in the vast majority of affected individuals (81.7% = 49/60). Of the 23 deletions involving the 13q34 cytoband only, in 3 cases, developmental delay and/or intellectual disability was not reported. Interestingly, in two of these cases (66.7%), the deletions did not involve the terminal CHAMP1 gene, as opposed to 3/20 (15%) of patients with 13q34 deletions and neurocognitive disability. Facial dysmorphism and microcephaly were reported in about half of the overall cases, convulsions were noted in one-fifth of the patients, while heart anomalies, short stature and hypotonia each involved about 10-30% of the cases. None of the 13q33-q34 deletions were inherited from a reported healthy parent. 13q33-q34 microdeletions are rare chromosomal aberrations, associated with high risk for neurodevelopmental disability. The rarity of this chromosomal aberration necessitates continuous reporting and collection of available evidence, to improve the ability to provide accurate genetic counseling, especially in the context of prenatal setting.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 13 , Fenótipo , Adolescente , Adulto , Criança , Pré-Escolar , Bandeamento Cromossômico , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Masculino , Adulto Jovem
4.
Rev. neurol. (Ed. impr.) ; 68(12): 503-509, 16 jun., 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-180477

RESUMO

Introducción. Los prematuros tardíos constituyen actualmente el 70% de los nacimientos prematuros. Presentan mayor comorbilidad, incluyendo las alteraciones del neurodesarrollo, que pueden no manifestarse hasta la escolarización. Objetivo. Identificar dificultades en el desarrollo neurológico a los dos años de edad. Sujetos y métodos. Se valoró el desarrollo psicomotor a los dos años de los prematuros tardíos y del grupo control a término nacidos en nuestro centro entre enero y septiembre del año 2014 mediante la escala de Brunet-Lézine revisada y el cuestionario de edades y etapas para la detección de trastornos del neurodesarrollo Ages & Stages Questionnaires (ASQ-3). Resultados. Se incluyó a 88 niños. Los prematuros tardíos presentaron puntuaciones inferiores en el lenguaje y el desarrollo postural. Las niñas obtuvieron resultados superiores en la edad de desarrollo global, la coordinación oculomotriz, el lenguaje y la sociabilidad. El cuestionario ASQ-3 detectó las diferencias en comunicación y socioindividuales. Se identificaron como factores de riesgo para presentar alteración del desarrollo la prematuridad, para alteración del lenguaje, y el sexo masculino, para menor edad de desarrollo y alteración del lenguaje. La correlación entre la valoración del lenguaje con la escala de Brunet-Lézine revisada y el cuestionario ASQ-3 fue buena, con un coeficiente de correlación de Pearson de 0,7 (p < 0,001), lo que nuestra la utilidad del cuestionario. Conclusiones. Los prematuros tardíos presentan menor desarrollo del lenguaje a los dos años. La prematuridad y el sexo masculino son factores de riesgo para presentar alteración. La valoración del lenguaje con el cuestionario ASQ-3 puede ser útil para detectar alteraciones


Introduction. Late preterm infants currently constitute 70% of preterm infant births. They present greater comorbidity, including neurodevelopment disorders, which may not manifest until the school age. Aim. To identify the existence of difficulties in the neurodevelopment at the age of two years. Subjects and methods. The psychomotor development was performed at two years of age in late preterm infants and term control group born at our center between January and September 2014, with Brunet-Lezine Revised test and Ages & Stages Questionnaires (ASQ-3) questionnaire. Results. 88 children were included. Late preterm infants had lower scores in the language area and postural developmental. Girls achieved better results than males at global developmental age, oculo-motor coordination, language area and sociability. The ASQ-3 questionnaire detected differences in communication and socio-individual. Prematurity and male sex were identified as an independent risk factor to present a developmental disorder, prematurity for language impairment and male sex for younger developmental age and language impairment. The correlation between language assessment with the Brunet-Lezine Revised test and the ASQ-3 questionnaire was good, with a Pearson correlation coefficient of 0.7 (p < 0.001), showing the usefulness of the questionnaire. Conclusions. Late preterm infants have a lower developmental age in the language area at two years. Prematurity and male sex are risk factors for developmental disorder. Language assessment with the ASQ-3 questionnaire may be a useful tool to detect disorders and intervene early


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Recém-Nascido Prematuro/fisiologia , Desenvolvimento Infantil/fisiologia , Desempenho Psicomotor/fisiologia , Deficiências do Desenvolvimento/diagnóstico , Seguimentos , Idade Gestacional , Fatores de Risco , Estudos de Casos e Controles
5.
Int J Pediatr Otorhinolaryngol ; 123: 26-32, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31055204

RESUMO

OBJECTIVE: To assess the capacity of two parental report questionnaires, OMQ-14 and ECLiPS, to support clinical-decision making in children affected by Otitis Media with Effusion (OME). DESIGN: OMQ-14 and ECLiPS were administered twice to 90 children aged 2-12 years, three months apart, or 3 months after surgery to insert ventilation tubes (VT). Children were subdivided according to clinical diagnosis into VT (n = 25) and Active Observation (AO; n = 20), and compared with healthy control children (n = 45). Data were analyzed at group level using repeated measures ANOVA, and at individual level using Receiver Operator Characteristics (ROC) curves and confusion matrices. RESULTS: Both OMQ-14 and ECLiPS were sensitive to the presence of OME, and also to improvements in hearing post-surgery. Both were also good at classifying children into their clinically-established diagnostic groups based on score cut-offs determined using Receiver Operator Characteristics (ROC) curves. However, outputs from confusion matrices suggest only around 50% of children after VTs would be indistinguishable from controls following VT surgery. Differences were observed in which children were identified as still having problems according to the questionnaires. OMQ-14 is more sensitive to disease-related hearing loss, while the ECLiPS is more sensitive to developmental difficulties. CONCLUSIONS: Despite being developed with different aims in mind, the OMQ-14 and ECLiPS were similarly sensitive both to symptoms of disease-related hearing difficulty and also to treatment-related improvements in hearing. A significant number of VT children continue to have poor OMQ-14 and ECLiPS scores relative to control children. ECLiPS scores do not always change in a way that hearing improvements would predict, suggesting the ECLiPS is sensitive to wider developmental difficulties. Parental report in the form of narrow or broad-based questionnaires may complement history-taking and audiometry to enhance the quality of discussion between carers and clinicians about OME management.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Perda Auditiva/diagnóstico , Otite Média com Derrame/diagnóstico , Otite Média com Derrame/terapia , Inquéritos e Questionários , Audiometria , Criança , Pré-Escolar , Tomada de Decisão Clínica , Técnicas de Apoio para a Decisão , Deficiências do Desenvolvimento/etiologia , Feminino , Perda Auditiva/etiologia , Humanos , Masculino , Ventilação da Orelha Média , Otite Média com Derrame/complicações , Pais , Curva ROC , Conduta Expectante
6.
J Autism Dev Disord ; 49(9): 3685-3694, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31144232

RESUMO

Identifying the early signs of developmental disability is important for ensuring timely diagnosis and early intervention. Day-care workers may be in a prime position to notice potential developmental deviations, but it is unclear if they can accurately recognize subtle early signs of atypical development. Sixty day-care workers examined home-videos of very young children with fragile X syndrome and typically developing children. Results indicated that most day-care workers can distinguish typical and atypical development in general and might therefore have an important role in early identification. Special work experience and advanced pedagogical training appeared to boost day-care workers' sensitivity to detect atypical features in early development and to provide effective daily surveillance.


Assuntos
Cuidadores/estatística & dados numéricos , Deficiências do Desenvolvimento/diagnóstico , Avaliação da Deficiência , Síndrome do Cromossomo X Frágil/diagnóstico , Criança , Cuidado da Criança , Pré-Escolar , Diagnóstico Precoce , Feminino , Humanos , Masculino
8.
Pediatr Cardiol ; 40(5): 1072-1083, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31079193

RESUMO

Extracorporeal membrane oxygenation (ECMO) is lifesaving for many critically ill children with congenital heart disease (CHD). However, limited information is available about their ensuing neurodevelopmental (ND) outcomes. We describe early ND outcomes in a cohort of children supported with ECMO for cardiac indications. Twenty-eight patients supported with ECMO at age < 36 months underwent later ND testing at 12-42 months of age using the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III). ND scores were compared with normative means and with ND outcomes of a matched cohort of 79 children with CHD undergoing cardiac surgery but not requiring ECMO support. Risk factors for worse ND outcomes were identified using multivariable linear regression models. Cardiac ECMO patients had ND scores at least one standard deviation below the normative mean in the gross motor (61%), language (43%), and cognitive (29%) domains of the Bayley-III. Cardiac ECMO patients had lower scores on the motor, language, and cognitive domains as compared to the matched non-ECMO group and clinically important (1/2 SD) differences in the motor domain persisted after controlling for primary caregiver education and number of cardiac catheterizations. Risk factors of worse ND outcomes among cardiac ECMO patients in more than one developmental domain included older age at first cannulation and more cardiac catheterization and cardiac surgical procedures prior to ND assessment. Overall, children supported on ECMO for cardiac indications have significant developmental delays and warrant close ND follow-up.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Oxigenação por Membrana Extracorpórea/efeitos adversos , Cardiopatias Congênitas/terapia , Procedimentos Cirúrgicos Cardíacos/estatística & dados numéricos , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Testes Neuropsicológicos , Estudos Retrospectivos , Fatores de Risco
9.
BMJ Case Rep ; 12(4)2019 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-31015250

RESUMO

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain-hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.


Assuntos
Cerebelo/anormalidades , Anormalidades do Olho/complicações , Terapia de Reposição Hormonal/métodos , Doenças Renais Císticas/complicações , Hormônios Hipofisários/deficiência , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/tratamento farmacológico , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Assistência ao Convalescente , Encéfalo/diagnóstico por imagem , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/tratamento farmacológico , Doenças dos Genitais Masculinos/diagnóstico , Doenças dos Genitais Masculinos/etiologia , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Recém-Nascido , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/tratamento farmacológico , Imagem por Ressonância Magnética , Masculino , Pênis/anormalidades , Hormônios Hipofisários/metabolismo , Esteroides/administração & dosagem , Esteroides/uso terapêutico , Resultado do Tratamento
10.
Singapore Med J ; 60(3): 119-123, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30997518

RESUMO

Developmental delays are common in childhood, occurring in 10%-15% of preschool children. Global developmental delays are less common, occurring in 1%-3% of preschool children. Developmental delays are identified during routine checks by the primary care physician or when the parent or preschool raises concerns. Assessment for developmental delay in primary care settings should include a general and systemic examination, including plotting growth centiles, hearing and vision assessment, baseline blood tests if deemed necessary, referral to a developmental paediatrician, and counselling the parents. It is important to follow up with the parents at the earliest opportunity to ensure that the referral has been activated. For children with mild developmental delays, in the absence of any red flags for development and no abnormal findings on clinical examination, advice on appropriate stimulation activities can be provided and a review conducted in three months' time.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/terapia , Atenção Primária à Saúde/organização & administração , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Programas de Rastreamento/métodos , Pais , Pediatria/métodos , Exame Físico , Relações Médico-Paciente , Encaminhamento e Consulta , Singapura
11.
Singapore Med J ; 60(2): 57-62, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30843079

RESUMO

Child development refers to the continuous but predictably sequential biological, psychological and emotional changes that occur in human beings between birth and the end of adolescence. Developmental surveillance should be incorporated into every child visit. Parents play an important role in the child's developmental assessment. The primary care physician should educate and encourage parents to use the developmental checklist in the health booklet to monitor their child's development. Further evaluation is necessary when developmental delay is identified. This article aimed to highlight the normal child developmental assessment as well as to provide suggestions for screening tools and questions to be used within the primary care setting.


Assuntos
Desenvolvimento Infantil , Deficiências do Desenvolvimento/diagnóstico , Médicos de Atenção Primária , Adolescente , Lista de Checagem , Criança , Pré-Escolar , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Relações Pais-Filho , Pais/psicologia , Médicos de Atenção Primária/psicologia , Atenção Primária à Saúde , Relações Profissional-Família , Singapura
12.
Prax Kinderpsychol Kinderpsychiatr ; 68(3): 183-197, 2019 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-30838949

RESUMO

Discriminative Validity of the Wechsler Intelligence Scale for Children - IV (WIS) in a Social-Pediatric Sample This study presents data on the discriminative validity of the Wechsler Scale of Intelligence for Children - IV (WIS) for clinical diagnoses, different types of schooling, and variables related to migration. The sample comprises 631 children aged 6 to 13 who were tested with the WIS core tests in German centers of social pediatrics (Sozialpädiatrische Zentren) which offer interdisciplinary assessment and intervention for children and youth with developmental disorders, disabilities, and psychological problems. Large effects were found for clinical diagnoses and types of schooling that are related to intellectual abilities: Children with intellectual developmental disorders and pupils of special schools for children with intellectual disability obtained low or very low IQ-scores. Children with migration background scored relatively lower only on the Verbal Comprehension Index.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Deficiência Intelectual/diagnóstico , Inteligência , Pediatria/normas , Escalas de Wechsler/normas , Adolescente , Criança , Deficiências do Desenvolvimento/psicologia , Alemanha , Humanos , Deficiência Intelectual/psicologia
13.
Pediatrics ; 143(4)2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30894408

RESUMO

BACKGROUND AND OBJECTIVES: Despite professional guidelines to conduct universal early childhood developmental screening, primary care providers often struggle with early identification of developmental delays, referrals to interventions, and connecting families to services. In this study, we tested the efficacy of telephone-based developmental screening and care coordination through 2-1-1 Los Angeles County, which is part of a national network of call centers, compared with usual care alone. METHODS: Children ages 12 to 42 months old who receive well-child care at a community health center serving predominantly Hispanic families were recruited and randomly assigned to intervention and control groups. Families in the intervention group were connected with 2-1-1, in which a trained care coordinator conducted developmental screening over the phone using the Parental Evaluation of Development Status Online system and made referrals to intervention services on the basis of developmental risk. The 2-1-1 care coordinator then followed-up with families to assist with connections to evaluations and services. After 6 months, primary outcomes included the following: (1) percentage of children referred for developmental evaluation and intervention services and (2) percentage of children actually receiving services. RESULTS: One hundred and fifty-two children were randomly assigned to intervention (n = 77) and control (n = 75) groups. On the basis of intention-to-treat analyses, significantly more children assigned to the intervention group were referred (32% vs 9%; P = .001) and were receiving services (16% vs 1%; P = .002) within 6 months compared with children assigned to usual care alone. CONCLUSIONS: Telephone-based developmental screening and care coordination through 2-1-1 appears to be an effective approach for increasing the numbers of young children referred to, and receiving, intervention services for developmental delays.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Intervenção Médica Precoce/organização & administração , Programas de Rastreamento/instrumentação , Planejamento de Assistência ao Paciente/organização & administração , Telefone/estatística & dados numéricos , Instituições de Assistência Ambulatorial , California , Pré-Escolar , Deficiências do Desenvolvimento/epidemiologia , Feminino , Humanos , Incidência , Lactente , Masculino , Programas de Rastreamento/métodos , Desenvolvimento de Programas , Avaliação de Programas e Projetos de Saúde , Valores de Referência , Medição de Risco
14.
Pediatrics ; 143(3)2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30745433

RESUMO

: media-1vid110.1542/5984243260001PEDS-VA_2018-0492Video Abstract BACKGROUND: Sleep problems can impact daytime behavior, quality of life, and overall health. We compared sleep habits in young children with autism spectrum disorder (ASD) and other developmental delays and disorders and in children from the general population (POP). METHODS: We included 2- to 5-year-old children whose parent completed all items on the Children's Sleep Habits Questionnaire (CSHQ) in a multisite case-control study: 522 children with ASD; 228 children with other developmental delays and disorders with autism spectrum disorder characteristics (DD w/ASD); 534 children with other developmental delays and disorders without autism spectrum disorder characteristics (DD w/o ASD); and 703 POP. Multivariable analysis of variance compared CSHQ mean total score (TS) and subscale scores between groups. Logistic regression analysis examined group differences by using TS cutoffs of 41 and 48. Analyses were adjusted for covariates. RESULTS: Mean CSHQ TS for children in each group: ASD (48.5); DD w/ASD (50.4); DD w/o ASD (44.4); and POP (43.3). Differences between children with ASD and both children with DD w/o ASD and POP were statistically significant. Using a TS cutoff of 48, the proportion of children with sleep problems was significantly higher in children in the ASD group versus DD w/o ASD and POP groups (adjusted odds ratios [95% confidence intervals]: 2.12 [1.57 to 2.87] and 2.37 [1.75 to 3.22], respectively). CONCLUSIONS: Sleep problems are more than twice as common in young children with ASD and DD w/ASD. Screening for sleep problems is important in young children to facilitate provision of appropriate interventions.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/epidemiologia , Transtorno do Espectro Autista/psicologia , Estudos de Casos e Controles , Pré-Escolar , Deficiências do Desenvolvimento/psicologia , Feminino , Humanos , Masculino , Transtornos do Sono-Vigília/psicologia , Inquéritos e Questionários
15.
J Autism Dev Disord ; 49(6): 2348-2357, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30739222

RESUMO

We analyzed CBCL/1½-5 Pervasive Developmental Problems (DSM-PDP) scores in 3- to 5-year-olds from the Study to Explore Early Development (SEED), a multi-site case control study, with the objective to discriminate children with ASD (N = 656) from children with Developmental Delay (DD) (N = 646), children with Developmental Delay (DD) plus ASD features (DD-AF) (N = 284), and population controls (POP) (N = 827). ASD diagnosis was confirmed with the ADOS and ADI-R. With a cut-point of T ≥ 65, sensitivity was 80% for ASD, with specificity varying across groups: POP (0.93), DD-noAF (0.85), and DD-AF (0.50). One-way ANOVA yielded a large group effect (η2 = 0.50). Our results support the CBCL/1½-5's as a time-efficient ASD screener for identifying preschoolers needing further evaluation.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Lista de Checagem/métodos , Comportamento Infantil/psicologia , Programas de Rastreamento/métodos , Estudos de Casos e Controles , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/psicologia , Feminino , Humanos , Masculino
16.
Infant Behav Dev ; 54: 140-150, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30784761

RESUMO

Infants learn about objects by exploring them. Typically developing infants actively explore objects through visual, manual, and oral modalities. Attenuated exploratory behavior has been observed in various neurodevelopmental disorders, including Down syndrome (DS), presumably limiting learning options. However, a direct link between exploration and overall developmental functioning has not been characterized. This study used a Latent Profile Analysis framework to examine within-syndrome variability in exploratory behavior in infants with DS and the developmental correlates of different exploratory behavior profiles. Participants were 45 infants with DS (CA = 9.58 months; SD = 3.62) who completed an object exploration activity and the Bayley Scales of Infant Development-III (BSID-III; Bayley, 2006). Exploration behavior was coded for the percentage of time engaged in visual, manual, and oral exploration. Results indicated that a 2-profile solution provided the best model fit for exploratory behavior, yielding profiles that represented either an Active (57.78% of the sample) or a Passive Exploratory (42.22% of the sample) profile. The Active Exploratory profile was associated with significantly higher age equivalent scores on the BSID-III Cognitive, Communication, and Motor domains than the Passive Exploratory profile. Other factors, such as sex and biomedical risk factors, were not associated with exploratory profiles. These findings offer a more nuanced understanding of early within-syndrome heterogeneity in DS, and demonstrate that impoverished early exploratory behavior may serve as an important indicator of increased risk for more pronounced developmental delays in DS.


Assuntos
Desenvolvimento Infantil/fisiologia , Síndrome de Down/psicologia , Comportamento Exploratório/fisiologia , Desempenho Psicomotor/fisiologia , Adulto , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/psicologia , Síndrome de Down/diagnóstico , Feminino , Humanos , Lactente , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/psicologia
17.
Plast Reconstr Surg ; 143(5): 1037e-1052e, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30789480

RESUMO

BACKGROUND: Long-term neuropsychological and cognitive outcomes in patients with nonsyndromic craniosynostosis have proven difficult to evaluate objectively because of methodologic problems with published studies based on their small and biased samples of patients, wide age ranges, and testing with unacceptable psychometric properties. This study evaluated the Full-Scale Intelligence Quotient and its subscales in a cohort with a small selection bias. METHODS: Patients aged 7 to 16 years, born with nonsyndromic craniosynostosis and surgically treated, were tested using the Wechsler Intelligence Scale for Children, Fourth Edition. Ninety-one patients were invited, and 73 patients were tested. RESULTS: There was no difference in Full-Scale Intelligence Quotient score between patients who had undergone operations for sagittal synostosis or metopic synostosis and norms provided by the test. Patients operated on for sagittal synostosis showed a significantly higher perceptual reasoning intelligence quotient, but also significantly lower working-memory intelligence quotient and processing-speed intelligence quotient compared with the norms. Patients operated on for metopic synostosis showed no differences in any intelligence quotient index compared with the norm. In addition, attrition analysis showed no differences in background factors between responders and nonresponders. CONCLUSIONS: These results derived from a group of patients with uniform age range, and tested using an established tool, revealed that nonsyndromic children having undergone surgery for craniosynostosis exhibited average intellectual ability. However, the analysis indicated possible issues with working memory and processing speed in patients operated on for sagittal synostosis, highlighting impairments potentially associated with neuropsychological problems and that might contribute to learning disabilities.


Assuntos
Craniossinostoses/cirurgia , Deficiências do Desenvolvimento/diagnóstico , Transtornos de Aprendizagem/diagnóstico , Procedimentos Ortopédicos , Procedimentos Cirúrgicos Reconstrutivos , Adolescente , Criança , Cognição , Craniossinostoses/complicações , Craniossinostoses/epidemiologia , Deficiências do Desenvolvimento/etiologia , Feminino , Humanos , Incidência , Testes de Inteligência , Transtornos de Aprendizagem/etiologia , Masculino , Resultado do Tratamento
18.
Early Hum Dev ; 130: 109-115, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30743197

RESUMO

OBJECTIVE: To evaluate the combined prognostic value of neurological examination, head circumference and cranial ultrasound for neurodevelopmental delay (NDD) in very low birth weight (VLBW, <1500 g) preterm infants. METHODS: Prospective follow-up study. Preterm infants with VLWB were assessed for NDD using the Mullen Scales of Early Learning test at 24 months of corrected age. Abnormal neurological examination (≥2 deviant items of Hammersmith neurological examination), microcephaly and major ultrasound abnormalities, each performed at term age, were evaluated as predictors of NDD in a multivariable Poisson model. RESULTS: 35/132 infants (26.5%) had NDD. In the multivariable analysis, microcephaly (RR, 3.2; 95% CI, 1.6-6.7) and major ultrasound abnormalities (RR, 2.7; 95% CI, 1.3-5.7) were associated to NDD. The combination of the two tests showed the highest positive predictive value (100%; 95% CI, 51%-100%), while the combination of normal neurological examination, no major US findings and normal head size at term showed the highest negative predictive value (89%; 95% CI, 78%-95%). The maximum under receiver operating characteristic curve area was for microcephaly or major ultrasound abnormalities (AUC 0.74 (0.65-0.83)). CONCLUSION: The combination of head circumference, cranial ultrasound and neurological examination at term age is useful to predict NDD in VLBW preterm infants.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Recém-Nascido de muito Baixo Peso/crescimento & desenvolvimento , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Deficiências do Desenvolvimento/epidemiologia , Feminino , Humanos , Recém-Nascido , Masculino , Exame Neurológico/normas , Valor Preditivo dos Testes , Ultrassonografia/normas
19.
Prim Care ; 46(1): 69-84, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30704661

RESUMO

Screening and prevention are important components of general pediatric health care. Infants and young children should be screened for iron deficiency anemia, lead poisoning, and developmental disorders as essential parts of the well-child visit. Developmental and behavioral screening early in childhood is necessary to identify developmental delays and facilitate timely treatment. Lead screening is recommended for at-risk pediatric patients to treat children with elevated lead levels. Infants and children are also at risk for iron deficiency anemia and must be screened appropriately. Familiarization with pediatric screening guidelines is critical for primary care providers caring for children.


Assuntos
Anemia Ferropriva/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Intoxicação por Chumbo/diagnóstico , Anemia Ferropriva/epidemiologia , Anemia Ferropriva/prevenção & controle , Transtorno do Espectro Autista/diagnóstico , Criança , Desenvolvimento Infantil , Pré-Escolar , Deficiências do Desenvolvimento/epidemiologia , Humanos , Incidência , Lactente , Intoxicação por Chumbo/prevenção & controle , Programas de Rastreamento , Fatores de Risco , Estados Unidos/epidemiologia
20.
Gene ; 695: 12-17, 2019 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-30738969

RESUMO

Microcephaly is a rare condition in which the occipitofrontal circumference in a child is more than two standard deviations below the mean of children of the same age and gender. It is mainly caused by genetic abnormalities that interfere with the growth of the cerebral cortex during early months of fetal development. We present a case of a 12 years old patient with microcephaly. To identify a possible genetic origin of the phenotype, we performed array CGH and exome sequencing in the patient. Exome sequencing revealed the presence of a de novo missense mutation in the TUBB5 gene (E401K). Mutations in the TUBB5 are mainly responsible for microcephaly but the clinical spectrum is wide, from patients with severe developmental delay, and the presence of different brain malformations, to patients with only slightly cognitive impairment and normal motor development. Our patient shows a milder phenotype than other patients carrying the same mutation. These differences in the clinical features suggest that other factors, presumably genetic or epigenetic, could be modulating clinical expressivity of TUBB5. It is therefore evident that more functional studies are needed to understand the pathology that underlies the clinical spectrum of tubulin associated disease states.


Assuntos
Deficiências do Desenvolvimento/genética , Microcefalia/genética , Malformações do Sistema Nervoso/genética , Tubulina (Proteína)/genética , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/fisiopatologia , Exoma/genética , Feminino , Humanos , Masculino , Microcefalia/diagnóstico , Microcefalia/fisiopatologia , Mutação , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/fisiopatologia
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