Inter-relações entre distúrbios respiratórios do sono, respiração bucal e distúrbios do comportamento na infância / Relationships between sleep-disordered breathing, oral breathing and behavioral disorders in childhood

A caracterização atual dos distúrbios respiratórios do sono compreende desde a síndrome de apnéia do sono até a síndrome de resistência das vias aéreas superiores. A fisiopatologia dos distúrbios respiratórios do sono na infância mantém complexas correlações com a respiração bucal. Com freqüência, crianças com distúrbios respiratórios do sono podem desenvolver alterações comportamentais, tais como déficit de atenção e hiperatividade, bem como manifestar sonolência ou, ainda, apresentar complicações sistêmicas cardiovasculares e déficit pôndero-estatural. Com base na literatura recente sobre o tema, são apresentadas as correlações entre os distúrbios respiratórios do sono e o transtorno do déficit de atenção/hiperatividade.

The recent concept of sleep disordered-breathing ranges from the sleep apnea syndrome to the upper airways resistance syndrome. The physiopathology of sleep-disordered breathing includes complex relations with oral breathing. Children with sleep-disordered breathing often present behavioral disorders, such as attention deficit and hyperactivity, excessive daytime sleepiness as well as systemic cardiovascular or growth. Based on recent references, we discuss the correlations between sleep-disordered breathing and attention deficit/hyperactivity disorder.

Schwartz-jampel syndrome: report of five cases

We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients