Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment

OBJECTIVES: Precise characterization of cognitive outcomes and factors that contribute to cognitive variability will enable better understanding of disease progression and treatment effects in mucopolysaccharidosis type I (MPS I). We examined the effects on cognition of phenotype, genotype, age at evaluation and first treatment, and somatic disease burden. METHODS: Sixty patients with severe MPS IH (Hurler syndrome treated with hematopoietic cell transplant and 29 with attenuated MPS I treated with enzyme replacement therapy), were studied with IQ measures, medical history, genotypes. Sixty-seven patients had volumetric MRI. Subjects were grouped by age and phenotype and MRI and compared to 96 normal controls. RESULTS: Prior to hematopoietic cell transplant, MPS IH patients were all cognitively average, but post-transplant, 59% were below average, but stable. Genotype and age at HCT were associated with cognitive ability. In attenuated MPS I, 40% were below average with genotype and somatic disease burden predicting their cognitive ability. White matter volumes were associated with IQ for controls, but not for MPS I. Gray matter volumes were positively associated with IQ in controls and attenuated MPS I patients, but negatively associated in MPS IH. CONCLUSIONS: Cognitive impairment, a major difficulty for many MPS I patients, is associated with genotype, age at treatment and somatic disease burden. IQ association with white matter differed from controls. Many attenuated MPS patients have significant physical and/or cognitive problems and receive insufficient support services. Results provide direction for future clinical trials and better disease management

Violência contra a criança: indicadores dermatológicos e diagnósticos diferenciais Child abuse: skin markers and differential diagnosis

As denúncias de abuso contra a criança têm sido frequentes e configuram grave problema de saúde pública. O tema é desconfortável para muitos médicos, seja pelo treinamento insuficiente, seja pelo desconhecimento das dimensões do problema. Uma das formas mais comuns de violência contra a criança é o abuso físico. Como órgão mais exposto e extenso, a pele é o alvo mais sujeito aos maustratos. Equimoses e queimaduras são os sinais mais visíveis. Médicos (pediatras, clínicos-gerais e dermatologistas) costumam ser os primeiros profissionais a observar e reconhecer sinais de lesões não acidentais ou intencionais. Os dermatologistas podem auxiliar na distinção entre lesões traumáticas intencionais, acidentais e doenças cutâneas que mimetizam maus-tratos<br>Reports of child abuse have increased significantly. The matter makes most physicians uncomfortable for two reasons: a) Little guidance or no training in recognizing the problem; b - Not understanding its true dimension. The most common form of child violence is physical abuse. The skin is the largest and frequently the most traumatized organ. Bruises and burns are the most visible signs. Physicians (pediatricians, general practitioners and dermatologists) are the first professionals to observe and recognize the signs of intentional injury. Dermatologists particularly, can help distinguish intentional injury from accidental, or from skin diseases that mimic maltreatmen