RESUMO
To determine the range of neurodevelopmental diagnoses associated with intermediate (45-54 repeats) and premutation (55-200 repeats) range cytosine-guanine-guanine fragile X expansions, the medical records of children with intermediate or premutation range expansions were retrospectively reviewed, and all neurodevelopmental diagnoses were abstracted. Twenty-nine children (9 female, 20 male; age, 13 months to 17 years) with intermediate (n = 25) or premutation (n = 4) range expansions were identified with neurodevelopmental diagnoses, including global developmental delay/intellectual disability (n = 15), language and learning disorders (n = 9), attention-deficit hyperactivity disorder (n = 5), epilepsy (n = 5), and motor disorders (n = 12), including 2 boys younger than 4 years of age with tremor and ataxia. Thus, children with intermediate or premutation range fragile X cytosine-guanine-guanine expansions may be more susceptible than children without such expansions to other processes, both genetic and environmental, that contribute to neurodevelopmental disability.
Assuntos
Deficiências do Desenvolvimento/genética , Proteína do X Frágil da Deficiência Intelectual/genética , Mutação , Expansão das Repetições de Trinucleotídeos , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/genética , Criança , Transtornos Globais do Desenvolvimento Infantil/genética , Pré-Escolar , Citosina , Epilepsia/genética , Feminino , Guanina , Humanos , Lactente , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/genética , Deficiências da Aprendizagem/genética , Masculino , Transtornos dos Movimentos/genética , Estudos RetrospectivosRESUMO
Practice guidelines advocate a multidisciplinary approach to the treatment of adolescents with anorexia nervosa. A specific type of therapy in which the family plays an integral role has yielded good outcomes. We describe 2 patients who failed to respond to conventional care in a multidisciplinary setting and subsequently underwent family-based therapy with good results. Our findings suggest that enlisting the family in the treatment of adolescents with anorexia nervosa may lead to greater weight gain, shorter treatment duration, and reduced costs.
