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1.
Psychiatr Danub ; 31(Suppl 3): 455-461, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488772

RESUMO

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


Assuntos
Transtornos do Neurodesenvolvimento/reabilitação , Reabilitação/normas , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/reabilitação , Transtornos do Neurodesenvolvimento/complicações , Avaliação de Resultados (Cuidados de Saúde)
2.
Dev Med Child Neurol ; 61(7): 813-819, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30720211

RESUMO

AIM: To assess the predictive validity of the Functional Evaluation of Eating Difficulties Scale (FEEDS) on long-term eating developmental outcomes in infants with neurodevelopmental disorders. METHOD: In total, 144 infants (69 females, 75 males) aged 0 to 12 months (mean [SD] 5.34mo [3.42]) with neurodevelopmental disorders and requiring enteral nutrition support, hospitalized between January 2004 and December 2017, were included. The FEEDS was administered at the onset of hospitalization. Follow-up evaluations of feeding modalities occurred at discharge and at 6 months, 12 months, and 24 months after discharge. FEEDS score was tested as a predictor of infants' feeding modality (percutaneous endoscopic gastrostomy, nasogastric tube, mixed, oral feeding) and time to autonomous oral feeding. Percentages of false-positive and negative cases were checked. RESULTS: Lower FEEDS scores significantly predicted infants' feeding modality (0.40≤R2 ≤0.61). A 1-point increase in FEEDS score was associated with increased risk (6%-14%; p<0.05) of being non-autonomous feeders at the different follow-up points in infants who had a FEEDS score above the clinical cut-off. INTERPRETATION: The FEEDS appears to be a clinically valid assessment to predict the presence of eating difficulties in infants with neurodevelopmental disabilities. WHAT THIS PAPER ADDS: Functional Evaluation of Eating Difficulties Scale (FEEDS) significantly predicted eating difficulties in infants with neurodevelopmental disabilities. Lower FEEDS score is significantly associated with autonomous feeding at the 24-month follow-up. FEEDS cut-off identified infants at low-risk and high-risk for eating disorder.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Destreza Motora , Transtornos do Neurodesenvolvimento/diagnóstico , Pré-Escolar , Erros de Diagnóstico , Avaliação da Deficiência , Nutrição Enteral , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Feminino , Seguimentos , Hospitalização , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Boca , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/terapia , Prognóstico , Fatores de Risco
3.
Pediatr Diabetes ; 20(3): 345-352, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30652399

RESUMO

OBJECTIVE: Psychiatric diagnoses of patients with type 1 diabetes mellitus (T1DM), the severity of attention deficit/hyperactivity disorder (ADHD) symptoms of the patients and their primary caregivers, and the effects of these factors on treatment were investigated. METHODS: Sixty-one patients with T1DM were included in the study along with their parents. Psychiatric diagnoses of the patients were determined using a semistructured psychiatric interview, and their depression and ADHD symptom severities were evaluated with self-report scales. The ADHD symptom severities of the parents were evaluated using self-report scales. The relationships among the psychiatric symptoms and the hemoglobin A1c (HbA1c), fasting blood glucose (FBG), and postprandial blood glucose (PBG) levels of the patients were investigated. RESULTS: HbA1c levels were found to correlate with the hyperactivity levels of children and the number of diagnoses they had. FBG and PBG values of patients diagnosed with ADHD were found to be higher than in those who did not have ADHD. HbA1c, FBG, and PBG values of the patients who had any disruptive behavior disorder were found to be higher than in those who did not. ADHD total scores, gender (being female), having diagnoses of ADHD or depression were found to be predictive of HbA1c levels according to the regression analyses. No relationship between the clinical findings of the children and their parents' ADHD levels was found. CONCLUSIONS: The findings of this study implicate that children with T1DM should be evaluated in terms of ADHD which could have negative effects on the treatment.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/complicações , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/terapia , Transtornos do Neurodesenvolvimento/complicações , Adolescente , Idade de Início , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/patologia , Criança , Depressão/complicações , Depressão/diagnóstico , Depressão/epidemiologia , Depressão/patologia , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/patologia , Pais/psicologia , Prognóstico , Autorrelato , Índice de Gravidade de Doença , Resultado do Tratamento
4.
Congenit Anom (Kyoto) ; 59(3): 81-87, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30592100

RESUMO

The rapid rise in the prevalence of autism spectrum disorders (ASD) and other psychiatric disorders displaying similar traits has increased the need to elucidate their molecular mechanisms. Epidemiological studies have shown that maternal infection during mid-pregnancy is associated with increased risk of neurodevelopmental disorders such as ASD in offspring. Using maternal infection models, researchers have gathered evidence relevant to such disorders. A comprehensive summary of the changes in the brain structure, function, and behavior in offspring induced by maternal immune activation (MIA) has been reported. However, the molecular mechanisms underlying the association between MIA and improper brain development, which ultimately lead to neurodevelopmental disorders, have not been fully reviewed. This paper summarizes the currently known molecular mechanisms associated with the MIA model, with a special focus on the role of the placenta in fetal brain development.


Assuntos
Infecções Bacterianas/genética , Encéfalo/imunologia , Interleucina-6/genética , Transtornos do Neurodesenvolvimento/genética , Complicações Infecciosas na Gravidez/genética , Viroses/genética , Animais , Infecções Bacterianas/complicações , Infecções Bacterianas/imunologia , Infecções Bacterianas/fisiopatologia , Encéfalo/efeitos dos fármacos , Encéfalo/crescimento & desenvolvimento , Encéfalo/fisiopatologia , Modelos Animais de Doenças , Feminino , Feto , Regulação da Expressão Gênica no Desenvolvimento , Humanos , Imunidade Inata/efeitos dos fármacos , Interleucina-6/imunologia , Lipopolissacarídeos/farmacologia , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/imunologia , Transtornos do Neurodesenvolvimento/fisiopatologia , Placenta , Poli I-C/farmacologia , Gravidez , Complicações Infecciosas na Gravidez/imunologia , Complicações Infecciosas na Gravidez/fisiopatologia , Transdução de Sinais , Fator de Necrose Tumoral alfa/genética , Fator de Necrose Tumoral alfa/imunologia , Viroses/complicações , Viroses/imunologia , Viroses/fisiopatologia
5.
Fisioterapia (Madr., Ed. impr.) ; 40(6): 305-311, nov.-dic. 2018. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-178936

RESUMO

Antecedentes y objetivo: Las alteraciones del neurodesarrollo motriz pueden ir asociadas a la prematuridad extrema. El objetivo del estudio consiste en determinar la prevalencia de alteraciones del neurodesarrollo motriz en prematuros extremos o muy prematuros, sin diagnóstico de parálisis cerebral. Material y métodos: Participaron 23 pacientes, un 69% niños, de 68,26±6 meses de edad (40-86), de los cuales 10 eran prematuros extremos (con edad gestacional <28 semanas y peso <1.500g al nacer) y 13 muy prematuros (≥28 y <32 semanas de edad gestacional, de los cuales 8 tenían un peso <1.500g al nacer), todos ellos sin parálisis cerebral. Se aplicó el test de desarrollo psicomotor de Picq-Vayer y la prueba neuropsicológica Beere-Buktenica de integración visomotriz. Resultados: El 69,57% de los pacientes presentó retraso del desarrollo psicomotor leve. Los indicadores globales de la prueba de integración visomotriz mostraron que el 86,9% presentaba disminución de la edad de desarrollo. El bajo peso al nacer explicaba el 15% de la varianza en edad psicomotora (R2ajustado=0,15; ß=0,44; p=0,041) y el 31% de la integración visomotriz (R2ajustado=0,31; ß=0,59; p=0,004). Conclusión: El estudio contribuye a aportar pruebas relativas a la incidencia de factores asociados a la prematuridad, especialmente el bajo peso al nacer, en el neurodesarrollo motriz. Los datos apoyan la presencia significativa de alteraciones neuromotrices de carácter leve en pacientes prematuros extremos y muy prematuros, sin que exista un diagnóstico de parálisis cerebral asociado, lo que podría generar problemas a largo plazo en estos pacientes


Background and objective: Motor neurodevelopment disorders may be associated with extreme prematurity. This study aims to determine the prevalence of motor neurodevelopmental disorders of extremely pre-term or very pre-term children without a diagnosis of cerebral palsy. Material and methods: The study included 23 patients, 69% boys, age: 68.26±6 months (40-86), of which 10 were extremely preterm, with gestational age < 28 weeks and birth weight < 1500g, and 13 very preterm (≥28 and <32 weeks of gestational age), of which 8 had a birth weight < 1500g, all of them without cerebral palsy. The psychomotor development test of Picq-Vayer and the Beere-Buktenica neuropsychological test of visual-motor integration were applied. Results: A large majority (69.57%) of patients have slight psychomotor development retardation. Global indicators for the visual-motor integration test show that 86.9% had a decrease in the developmental age. Low birth weight explained 15% of the variance in psychomotor age (R2adjusted=.15, ß=.44, P=.041) and 31% of visual-motor integration (R2adjusted=.31, ß=.59, P=.004). Conclusion: The presented study contributes to provide evidence regarding the incidence of factors associated with prematurity, especially low birth weight, in motor neurodevelopment. The data support the significant presence of mild neuromotor disorders in extremely preterm and very preterm patients without an associated diagnosis of cerebral palsy, which could generate long-term problems in these patients


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Nascimento Prematuro/fisiopatologia , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos Motores/fisiopatologia , Transtornos do Neurodesenvolvimento/complicações , Desenvolvimento Infantil , Transtornos Psicomotores , Epidemiologia Descritiva , Estudos Transversais/métodos , Prevalência
6.
Hum Genet ; 137(9): 735-752, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30167849

RESUMO

Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causal variants for syndromic and non-syndromic intellectual disability (ID), exome sequencing was performed using DNA samples from 22 consanguineous Pakistani families with ARID, of which 21 have additional phenotypes including microcephaly. To aid in variant identification, homozygosity mapping and linkage analysis were performed. DNA samples from affected family member(s) from every pedigree underwent exome sequencing. Identified rare damaging exome variants were tested for co-segregation with ID using Sanger sequencing. For seven ARID families, variants were identified in genes not previously associated with ID, including: EI24, FXR1 and TET3 for which knockout mouse models have brain defects; and CACNG7 and TRAPPC10 where cell studies suggest roles in important neural pathways. For two families, the novel ARID genes CARNMT1 and GARNL3 lie within previously reported ID microdeletion regions. We also observed homozygous variants in two ID candidate genes, GRAMD1B and TBRG1, for which each has been previously reported in a single family. An additional 14 families have homozygous variants in established ID genes, of which 11 variants are novel. All ARID genes have increased expression in specific structures of the developing and adult human brain and 91% of the genes are differentially expressed in utero or during early childhood. The identification of novel ARID candidate genes and variants adds to the knowledge base that is required to further understand human brain function and development.


Assuntos
Genes Recessivos , Marcadores Genéticos , Deficiência Intelectual/genética , Mutação , Transtornos do Neurodesenvolvimento/genética , Adulto , Consanguinidade , Família , Feminino , Humanos , Deficiência Intelectual/complicações , Masculino , Pessoa de Meia-Idade , Transtornos do Neurodesenvolvimento/complicações , Linhagem
8.
Scand J Psychol ; 59(1): 49-58, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29356007

RESUMO

Schizophrenia is a neurodevelopmental disorder that starts very early. In this review we describe the empirical evidence for the neurodevelopmental model. First, by outlining the roots of psychological research that laid the foundation of the model. Thereafter, describing cognitive dysfunction observed in schizophrenia, and the course of cognitive functioning in the illness. Then, research findings that speak for and studies that speak against the view that schizophrenia is a degenerative process is discussed. We find that there is ample evidence that cognitive disturbance is a core element in schizophrenia. However, we have limited understanding of what initiates the abnormal development. This the paper ends with pointing out some of the factors that may trigger the deviant neurocognitive development in schizophrenia.


Assuntos
Modelos Neurológicos , Transtornos do Neurodesenvolvimento , Esquizofrenia/classificação , Humanos , Transtornos do Neurodesenvolvimento/complicações , Esquizofrenia/etiologia , Psicologia do Esquizofrênico
9.
Epilepsia ; 59(2): 389-402, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29315614

RESUMO

OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg). SIGNIFICANCE: Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.


Assuntos
Epilepsias Mioclônicas/fisiopatologia , Proteínas da Membrana Plasmática de Transporte de GABA/genética , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Ataxia/complicações , Ataxia/genética , Ataxia/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Eletroencefalografia , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/tratamento farmacológico , Epilepsias Mioclônicas/genética , Epilepsias Parciais/complicações , Epilepsias Parciais/tratamento farmacológico , Epilepsias Parciais/genética , Epilepsias Parciais/fisiopatologia , Epilepsia Generalizada/complicações , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/genética , Epilepsia Generalizada/fisiopatologia , Feminino , Estudos de Associação Genética , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Mutação , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Resultado do Tratamento , Ácido Valproico/uso terapêutico , Adulto Jovem
10.
Eur J Med Genet ; 61(3): 157-160, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29174093

RESUMO

De novo monoallelic mutations in the GNB1 gene, encoding a ß subunit of heterotrimeric G proteins, cause a newly recognized disorder with the typical clinical picture of severe developmental delay/intellectual disability, hypotonia and extrapyramidal symptoms. We describe another case of the condition with manifestations of cutaneous mastocytosis associated with a novel do novo mutation GNB1NM_001282539.1: c.230G > T; p.(Gly77Val). We also present the detailed clinical and etiopathogenetic discussion on previously diagnosed patients as well as suggestions for the link of the mutation with skin disease.


Assuntos
Subunidades beta da Proteína de Ligação ao GTP/genética , Mastocitose Cutânea/genética , Mastocitose Cutânea/patologia , Mutação , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/patologia , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Mastocitose Cutânea/complicações , Pessoa de Meia-Idade , Transtornos do Neurodesenvolvimento/complicações , Linhagem , Fenótipo
12.
OTJR (Thorofare N J) ; 38(1): 6-14, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28891377

RESUMO

Children use executive function (EF) skills within everyday occupations; however, EF poses a difficult and complex construct to measure. Currently, many measures of EF lack applicability to daily life, or ecological validity. The aim of this scoping review was to examine two aspects of ecological validity across measures, assessments, and tasks of EF in children. A scoping review of 355 peer-reviewed articles published between 1996 and 2016 was performed. Searching revealed 43 articles addressing the ecological validity of EF measures for children and 40 measures addressing ecological validity. An increasing number of articles address ecological validity of EF measures. Future research should address the interplay between context and EF performance. In addition, research should begin recognizing the importance of parental involvement in assessments, as well as ways to capture the EF strengths of children.


Assuntos
Ecologia , Função Executiva , Doenças do Sistema Nervoso/complicações , Transtornos do Neurodesenvolvimento/complicações , Testes Neuropsicológicos/normas , Psicologia da Criança/métodos , Criança , Cognição , Transtornos Cognitivos/etiologia , Meio Ambiente , Feminino , Humanos , Masculino , Pais , Análise e Desempenho de Tarefas
13.
J Laparoendosc Adv Surg Tech A ; 28(1): 111-115, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29227195

RESUMO

BACKGROUND/OBJECTIVE: Many methods of laparoscopic gastrostomy have been described, but in the majority of these, purse-string sutures and fixation of the stomach to the abdominal wall are not performed simultaneously. In this study, we aim to present a new laparoscopic gastrostomy tube (GT) placement method developed in accordance with the classical Stamm method. MATERIALS AND METHODS: Intracorporeal purse-string suture is placed at the anterior wall of the stomach where the GT is intended to be placed. While purse-string sutures are being placed, in each bite, the needle is passed through from a loop thread prepared by extracorporeal and the two threads are suspended outside. The stomach is punctured with the hook cautery, the GT is inserted, and both threads are knotted outside the abdomen. RESULTS: We prospectively placed GT by using our method in 16 patients with an average age of 5 years and most of them with neurological developmental delay. Fundoplication was performed in most of the cases in the same session. No complications were encountered. CONCLUSIONS: Our method is a feasible approach for GT placement by the purse-string suturing and the fixation of the stomach to the abdominal wall without extending the port incision.


Assuntos
Gastrostomia/métodos , Laparoscopia/métodos , Técnicas de Sutura , Parede Abdominal/cirurgia , Adolescente , Criança , Pré-Escolar , Nutrição Enteral , Feminino , Fundoplicatura , Humanos , Lactente , Masculino , Transtornos do Neurodesenvolvimento/complicações , Estudos Prospectivos , Estômago/cirurgia , Suturas
14.
Eur Rev Med Pharmacol Sci ; 21(4 Suppl): 65-69, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29165762

RESUMO

The assorted circumstances characterized by malfunctioning in cognition, communication or motor skills lead to abnormal development of the central nervous system (CNS) in young infants. These conditions are collectively termed as neurodevelopmental disorders (NDDs) and are usually diagnosed during childhood or infancy. NDDs occur as frequent as 1-3% in the general population and their diagnostic yield is approximately 15-25% with existing available techniques. So, the majority of affected patients are still undiagnosed due to genetic and phenotypic heterogeneity despite the discovery of 450 genes associated with NDDs. Chromosomal rearrangements are known contributors to NDDs, which have been routinely detected by G-banding karyotyping and fluorescence in situ hybridization at extremely low resolution. The present review was focused on the recent perspectives in the diagnosis and management of these neuropathological states in young patients.


Assuntos
Transtornos do Neurodesenvolvimento/diagnóstico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Criança , Aberrações Cromossômicas , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Análise de Sequência de DNA
15.
J Clin Sleep Med ; 13(11): 1311-1317, 2017 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-29065963

RESUMO

STUDY OBJECTIVES: Neurocognitive deficits have been shown in school-aged children with sleep apnea. The effect of obstructive sleep apnea (OSA) on the neurodevelopmental outcome of preterm infants is unknown. METHODS: A retrospective chart review was performed for all preterm infants (< 37 weeks) who had neonatal polysomnography (PSG) and completed neurodevelopmental assessment with the Bayley Scales of Infant and Toddler Development, 3rd Edition, between 2006 to 2015 at Riley Hospital. Exclusion criteria included grade IV intraventricular hemorrhage, tracheostomy, cyanotic heart disease, severe retinopathy of prematurity, craniofacial anomalies, or central and mixed apnea on PSG. Sleep apnea was defined as an apnea-hypopnea index (AHI) > 1 event/h. Regression analyses were performed to find a relationship between PSG parameters and cognitive, language, and motor scores. RESULTS: Fifteen patients (males: n = 10) were eligible for the study. Median postmenstrual age at the time of the PSG was 41 weeks (37-46). Median AHI for the cohort was 17.4 events/h (2.2-41.3). Median cognitive, language, and motor scores were 90 (65-125), 89 (65-121), and 91 (61-112), respectively. Mean end-tidal CO2 (median 47 mm Hg [25-60]) negatively correlated with cognitive scores (P = .01) but did not significantly correlate with language or motor scores. AHI was not associated with cognitive, language, or motor scores. CONCLUSIONS: The median score for cognitive, language, and motor scores for preterm infants with neonatal OSA were within one standard deviation of the published norm. Mean end-tidal CO2, independent of AHI, may serve as a biomarker for predicting poor cognitive outcome in preterm infants with neonatal OSA. COMMENTARY: A commentary on this article appears in this issue on page 1233.


Assuntos
Recém-Nascido Prematuro , Transtornos do Neurodesenvolvimento/complicações , Apneia Obstrutiva do Sono/complicações , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Masculino , Polissonografia , Estudos Retrospectivos , Índice de Gravidade de Doença
16.
Brain ; 140(9): 2322-2336, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-29050398

RESUMO

De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel. The recurrent three-amino acid duplication p.(Asp2303_Leu2305dup) occurred in five patients. Our patient cohort exhibited a broad spectrum of neurodevelopmental phenotypes, comprising six patients with mild to moderate intellectual disability, with or without epilepsy and behavioural disorders, and 14 patients with infantile epileptic encephalopathy, of which 13 had severe neurodevelopmental impairment and four died in early childhood. Imaging studies suggested that the severity of neurological impairment and epilepsy correlates with that of structural abnormalities as well as the mutation type and location. Out of seven patients harbouring mutations outside the α/ß spectrin heterodimerization domain, four had normal brain imaging and three exhibited moderately progressive brain and/or cerebellar atrophy. Twelve of 13 patients with mutations located within the spectrin heterodimer contact site exhibited severe and progressive brain, brainstem and cerebellar atrophy, with hypomyelination in most. We used fibroblasts from five patients to study spectrin aggregate formation by Triton-X extraction and immunocytochemistry followed by fluorescence microscopy. αII/ßII aggregates and αII spectrin in the insoluble protein fraction were observed in fibroblasts derived from patients with the mutations p.(Glu2207del), p.(Asp2303_Leu2305dup) and p.(Arg2308_Met2309dup), all falling in the nucleation site of the α/ß spectrin heterodimer region. Molecular modelling of the seven SPTAN1 amino acid changes provided preliminary evidence for structural alterations of the A-, B- and/or C-helices within each of the mutated spectrin repeats. We conclude that SPTAN1-related disorders comprise a wide spectrum of neurodevelopmental phenotypes ranging from mild to severe and progressive. Spectrin aggregate formation in fibroblasts with mutations in the α/ß heterodimerization domain seems to be associated with a severe neurodegenerative course and suggests that the amino acid stretch from Asp2303 to Met2309 in the α20 repeat is important for α/ß spectrin heterodimer formation and/or αII spectrin function.


Assuntos
Encefalopatias/genética , Encéfalo/patologia , Proteínas de Transporte/genética , Epilepsia/genética , Proteínas dos Microfilamentos/genética , Adolescente , Atrofia/complicações , Atrofia/patologia , Encéfalo/anormalidades , Encefalopatias/complicações , Proteínas de Transporte/metabolismo , Células Cultivadas , Criança , Pré-Escolar , Progressão da Doença , Epilepsia/complicações , Feminino , Fibroblastos/metabolismo , Humanos , Masculino , Proteínas dos Microfilamentos/metabolismo , Modelos Moleculares , Mutação , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Fenótipo , Agregação Patológica de Proteínas/metabolismo , Adulto Jovem
17.
J Pediatr Endocrinol Metab ; 30(10): 1061-1066, 2017 Oct 26.
Artigo em Inglês | MEDLINE | ID: mdl-28917084

RESUMO

BACKGROUND: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months. METHODS: The study included a total of 116 healthy control subjects and 112 patients aged 24-56 months who were diagnosed with CH during the neonatal period and were being followed up at the Pediatric Endocrinology Department, Keçiören Training and Research Hospital, between 2012 and 2015. Demographics and clinical data of interventions and outcomes were retrieved for each patient. Statistical analysis was performed using an unpaired Student's t-test to compare means and χ2-analysis to compare proportions. RESULTS: There were no significant differences between the CH and control groups with respect to gestational age, birth weight, height standard deviation scores (HSDS) and body weight standard deviation scores (BWSDS) (p>0.05). When the groups were compared according to the Denver Developmental Screening Test (DDST), no significant differences were found in terms of personal-social, fine motor skills, or language development (p=0.325, p=0.087 and p=0.636, respectively). However, a significant difference was found between the two groups with respect to gross motor development and the result of the DDST (p=0.001). No statistical difference was found between the control and patient groups on the day of starting treatment but the number of patients with an abnormal result in the DDST starting treatment at >15 days was found to be significantly higher than the number of patients starting treatment ≤15 days. No associations were found between the DDST results of the CH group and the following factors: initial L-thyroxine (LT4) level, initial LT4 dose and the onset of treatment. CONCLUSIONS: The findings of this study indicate that the DDST results in patients with CH are generally good. Initiating treatment immediately after diagnosis and during the first days of life is absolutely imperative. However, in contrast to timing, we could not find strong evidence for determining the precise optimal dosage of LT4 to initiate treatment in children diagnosed with CH. Both the American Academy of Pediatrics and the European Society for Pediatric Endocrinology recommend 10-15 µg/kg/day as the initial dose.


Assuntos
Desenvolvimento Infantil/fisiologia , Hipotireoidismo Congênito/complicações , Transtornos do Neurodesenvolvimento/diagnóstico , Pré-Escolar , Hipotireoidismo Congênito/psicologia , Feminino , Humanos , Desenvolvimento da Linguagem , Masculino , Destreza Motora/fisiologia , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/psicologia , Testes Neuropsicológicos , Habilidades Sociais
18.
Microbes Infect ; 19(9-10): 443-448, 2017 Sep - Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28666807

RESUMO

This short communication identifies a significant flaw in research investigating the neurodevelopmental consequences of general anesthesia exposure. We have identified that chronic environmental exposure to pervasive air pollutants that are also widely used as anesthetic agents, specifically nitrous oxide (N2O), may contribute to the rising prevalence of neurodevelopmental disorders. Consistent with the emerging link between microbes and psychiatric illness risk, this epidemiological analysis extends our prior conclusions by proposing that such exposures may alter host immunity so as to enhance vulnerability to certain pathogenic microbes that have been implicated in neurodevelopmental disorders, including Pseudomonas aeruginosa and Clostridium difficile.


Assuntos
Anestésicos Inalatórios/efeitos adversos , Infecções por Clostridium/complicações , Transtornos do Neurodesenvolvimento/induzido quimicamente , Transtornos do Neurodesenvolvimento/complicações , Infecções por Pseudomonas/complicações , Adolescente , Adulto , Anestésicos Gerais/efeitos adversos , Criança , Pré-Escolar , Infecções por Clostridium/microbiologia , Clostridium difficile , Humanos , Lactente , Pessoa de Meia-Idade , Infecções por Pseudomonas/etiologia , Pseudomonas aeruginosa , Adulto Jovem
19.
Pediatr Neurol ; 74: 80-86.e2, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28754226

RESUMO

BACKGROUND: There is a recently well-documented association between childhood epilepsy and earlysymptomaticsyndromeselicitingneurodevelopmentalclinicalexaminations (ESSENCE) including autism spectrum disorder, but the relationship between febrile seizures and ESSENCE is less clear. METHODS: The Child and Adolescent Twin Study in Sweden (CATSS) is an ongoing population-based study targeting twins born in Sweden since July 1, 1992. Parents of 27,092 twins were interviewed using a validated DSM-IV-based interview for ESSENCE, in connection with the twins' ninth or twelfth birthday. Diagnoses of febrile seizures (n = 492) and epilepsy (n = 282) were based on data from the Swedish National Patient Register. Prevalence of ESSENCE in individuals with febrile seizures and epilepsy was compared with prevalence in the twin population without seizures. The association between febrile seizures and ESSENCE was considered before and after adjustment for epilepsy. Age of diagnosis of febrile seizures and epilepsy was considered as a possible correlate of ESSENCE in febrile seizures and epilepsy. RESULTS: The rate of ESSENCE in febrile seizures and epilepsy was significantly higher than in the total population without seizures (all P < 0.001). After adjusting for epilepsy, a significant association between febrile seizures and autism spectrum disorder, developmental coordination disorder, and intellectual disability remained. Earlier age of onset was associated with all ESSENCE except attention-deficit/hyperactivity disorder in epilepsy but not with ESSENCE in febrile seizures. CONCLUSIONS: In a nationally representative sample of twins, there was an increased rate of ESSENCE in childhood epilepsy and in febrile seizures. Febrile seizures alone could occur as a marker for a broader ESSENCE phenotype.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno Autístico , Doenças em Gêmeos , Epilepsia/etiologia , Transtornos do Neurodesenvolvimento , Convulsões Febris/complicações , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno Autístico/complicações , Transtorno Autístico/epidemiologia , Transtorno Autístico/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/genética , Prevalência , Estudos Retrospectivos , Índice de Gravidade de Doença , Suécia/epidemiologia
20.
Int J Dev Neurosci ; 61: 51-57, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28684307

RESUMO

Autism, learning disabilities and attention deficit/hyperactive disorder are often comorbid disorders. In order to try and find some markers that might be transnosographic, we hypothesized that abnormal postural sway profiles may discriminate children with neurodevelopmental disorders (NDDs) from typically developing children. The aim of our study was thus to compare spatial and temporal measures of the Center of Pressure in three distinct groups of children with NDDs (high functioning autism spectrum disorders, learning disabilities (dyslexia) and attention deficit/hyperactive disorders) and in typically developing children. Postural performances were thus evaluated in 92 children (23 per group, sex-, age- and IQ-matched groups) by using the Multitest Equilibre platform (Framiral®). Two viewing conditions (eyes open and eyes closed) were tested on a stable and unstable platform. Results reported similar poor postural instability for the three groups of children with NDDs with respect to the typically developing children, and this was observed for both spatial as well as temporal analysis of displacement of the center of pressure. Such postural instability observed in children with NDDs could be due to impairment in using sensorial inputs to eliminate body sway, probably due to poor cerebellar integration.


Assuntos
Transtornos do Neurodesenvolvimento/complicações , Equilíbrio Postural/fisiologia , Transtornos das Sensações/etiologia , Comportamento Espacial/fisiologia , Percepção Visual/fisiologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Estudos de Casos e Controles , Criança , Dislexia/complicações , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento/classificação , Análise Espaço-Temporal
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