RESUMO
Ten of 12 patients diagnosed with deletion 22q11.2 in infancy required a total of 26 hospitalizations during their first year of life. After heart disease, feeding and respiratory problems were the most frequent reasons for intervention.
Assuntos
Anormalidades Múltiplas/terapia , Deleção Cromossômica , Cromossomos Humanos Par 22 , Gerenciamento Clínico , Cardiopatias Congênitas/terapia , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Comportamento Alimentar , Feminino , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Hospitalização/estatística & dados numéricos , Humanos , Lactente , Recém-Nascido , Masculino , Ohio/epidemiologia , Infecções Respiratórias/epidemiologia , Estudos Retrospectivos , Comportamento de SucçãoRESUMO
OBJECTIVE: To describe social and emotional problems in children and adolescents with neurofibromatosis type 1 (NF1) and propose interventions. Our hypothesis is that children with NF1 will have significantly more social and emotional problems, compared with their unaffected siblings and children in the general population. STUDY DESIGN: Forty-three children with NF1 and 22 unaffected siblings (ages 5 to 18 years) were assessed with a standardized test completed by parents and teachers (the Child Behavior Checklist). RESULTS: As with other aspects of NF1, there was variable expressivity. However, when rated by parents, children with NF1 had significantly more problems in comparison with test norms or unaffected siblings on 7 of 8 scales: Social Problems, Attention Problems, Anxiety/Depression, Withdrawal, Thought Problems, Somatic Complaints, and Aggressive Behavior. Children with NF1 also scored lower than unaffected siblings on measures assessing sports and other activities. Teachers reported fewer differences. CONCLUSIONS: We propose interventions in the form of information for parents; early screening and treatment for speech, motor, and cognitive problems; and an increased level of intervention to prevent and treat psychologic problems, including systematic screening with standardized tests.
Assuntos
Neurofibromatose 1/psicologia , Adolescente , Terapia Comportamental , Sintomas Comportamentais , Criança , Comportamento Infantil , Pré-Escolar , Docentes , Feminino , Humanos , Masculino , Neurofibromatose 1/complicações , Neurofibromatose 1/terapia , Núcleo Familiar , Pais , Inquéritos e QuestionáriosRESUMO
Russell-Silver syndrome was reevaluated 2.9 to 13.0 years after initial diagnosis in 15 patients. At follow-up, five of the 15 patients exhibited late catch-up growth and had normal height, six had developmental delays or mental retardation, and asymmetry was present in five. Given the great variability in the long-term prognosis for growth and development in patients with Russell-Silver syndrome, there is a need to reevaluate this syndrome and its clinical implications.