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1.
J Med Genet ; 60(10): 999-1005, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37185208

RESUMO

PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder. METHODS: We collected detailed phenotypes of an international cohort of individuals (n=17) with ARF1 variants assembled through the GeneMatcher platform. Missense variants were structurally modelled, and the impact of several were functionally validated. RESULTS: De novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) in ARF1 were identified among 17 unrelated individuals. Detailed phenotypes included intellectual disability (ID), microcephaly, seizures and PVNH. No specific facial characteristics were consistent across all cases, however microretrognathia was common. Various hearing and visual defects were recurrent, and interestingly, some inflammatory features were reported. MRI of the brain frequently showed abnormalities consistent with a neuronal migration disorder. CONCLUSION: We confirm the role of ARF1 in an autosomal dominant syndrome with a phenotypic spectrum including severe ID, microcephaly, seizures and PVNH due to impaired neuronal migration.


Assuntos
Deficiência Intelectual , Microcefalia , Heterotopia Nodular Periventricular , Humanos , Encéfalo/diagnóstico por imagem , Genótipo , Deficiência Intelectual/genética , Fenótipo , Convulsões/genética
2.
J Pediatr Hematol Oncol ; 43(7): e979-e982, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33448717

RESUMO

Neurofibromatosis type 1 (NF1)-associated primary intramedullary spinal cord ganglioglioma has only rarely been reported. Because of frequent nonresectability, they pose significant management challenges despite clinical indolence. This report describes a 4-year-old girl with NF1 who was found to have multiple discrete, infiltrative intramedullary cord masses, and biopsy demonstrated World Health Organization grade I ganglioglioma. Panel-based next-generation sequencing showed her previously identified germline NF1 mutation and a second somatic NF1 mutation. This represents the first report of multiple primary intramedullary gangliogliomas in a child with NF1 and demonstrates how biopsy with panel-based next-generation sequencing provides potential targets for MAPK/MEK/BRAF pathway inhibitor therapy.


Assuntos
Ganglioglioma/patologia , Neurofibromatose 1/complicações , Medula Espinal/patologia , Pré-Escolar , Feminino , Ganglioglioma/etiologia , Humanos , Prognóstico
3.
J Pediatr Rehabil Med ; 8(2): 97-104, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26409863

RESUMO

PURPOSE: To describe parent perceptions of their child's quality of life (QOL) and their satisfaction with health care for a group of children with medical complexity (CMC), and to determine whether parent perceptions of child well-being are associated with QOL and health care satisfaction. METHODS: Participants were parents or legal guardians of children enrolled in a novel program of intensive outpatient care for CMC. Participants completed 7-item questionnaires to ascertain their perceptions of their child's well-being, QOL and health care satisfaction. RESULTS: One hundred and ninety-one participants completed questionnaires (response rate 100%). 85% rated their child's QOL as excellent, very good, or good. 87% reported satisfaction with their child's health care. Fair or poor mental health was associated with fair or poor QOL (OR 1.09, p= 0.0002). More pain was associated with lower QOL (OR 1.07, p= 0.0022). Fewer days of play or school attendance were associated with lower satisfaction with health care (OR 1.09, p= 0.0003). CONCLUSION: Our study suggests that more pain and worse mental health are associated with parental perceptions of the quality of life for their CMC. Clinicians who care for these children and their families should carefully and repeatedly assess for these important symptoms.


Assuntos
Assistência Ambulatorial , Doença Crônica/reabilitação , Assistência Integral à Saúde , Crianças com Deficiência/reabilitação , Pais/psicologia , Satisfação do Paciente/estatística & dados numéricos , Qualidade de Vida , Criança , Proteção da Criança , Pré-Escolar , Feminino , Humanos , Masculino , Percepção , Inquéritos e Questionários
4.
J Pediatr Rehabil Med ; 8(2): 105-11, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26409864

RESUMO

PURPOSE: To characterize high emergency department (ED) use by children with tracheostomies and complex chronic conditions, to distinguish avoidable from unavoidable ED visits, and to describe the financial impact of avoidable visits. METHODS: Children with tracheostomies in a pediatric tertiary care center with the highest ED utilization were identified via analysis of administrative data. Six experts in interdisciplinary dyads reviewed the records from all ED visits for these children, and distinguished avoidable from unavoidable visits. Hospital cost data for avoidable visits is described. RESULTS: Among 75 children with tracheostomies and complex chronic conditions, 23 (31%) were high ED utilizers. These 23 children accounted for 74% of all ED discharges the total group of 75 children from 2008 to 2011. Four of these 23 children with high utilization were excluded, leaving 19 subjects for review. These 19 children had 312 ED visits, of which 103 (33%) were deemed avoidable. Leading reasons for avoidable visits were uncomplicated upper respiratory infections, gastrointestinal infections, and enteral feeding system problems. Avoidable visits cost the hospital {$}67,940. CONCLUSIONS: One-third of ED visits by children with tracheostomies and complex chronic conditions may be avoidable. Increased ambulatory access to interdisciplinary teams of providers familiar with these children's unique needs might reduce avoidable ED visits and improve health outcomes. Further studies on how this model of ambulatory care might affect ED utilization and total healthcare costs are needed.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Hospitais Pediátricos/estatística & dados numéricos , Uso Excessivo dos Serviços de Saúde/estatística & dados numéricos , Centros de Atenção Terciária/estatística & dados numéricos , Traqueostomia , Adolescente , Assistência Ambulatorial/estatística & dados numéricos , Criança , Pré-Escolar , Doença Crônica , Serviço Hospitalar de Emergência/economia , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Custos Hospitalares/estatística & dados numéricos , Hospitais Pediátricos/economia , Humanos , Lactente , Estudos Retrospectivos , Centros de Atenção Terciária/economia , Traqueostomia/economia , Utah
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