RESUMEN
AIM: To describe neurodevelopmental and/or behavioral findings among a cohort of South African children exposed to maternal methamphetamine (MA) use during pregnancy. METHODS: Developmental assessments with the Griffiths Mental Developmental Scales (GMDS) were completed on a pilot cohort of 15 toddlers aged 2-4 years with a known history of maternal MA use during pregnancy. These were compared to a matched cohort of 21 toddlers without a history of maternal MA use. Each child underwent formal auditory testing and vision screen. The Child Behavior Checklist (CBCL) was completed by a parent or caregiver. Cohorts were matched for age, gestational age at birth, socio-economic status and geographic distribution. RESULTS: Baseline characteristics were similar between the two groups. Most significant areas of poorer performance on GMDS in the Methamphetamine-exposed cohort was noted on the Personal-Social Ability Subscale (p<0.0001) and on the Hand and Eye Co-ordination Subscale (p=0.0002), while lower scores were also obtained on General Quotients (p=0.022). There were also significant concerns regarding aggressive behavior and attention deficit/hyperactivity on the CBCL for the exposed group, although this did not reach statistical significance. CONCLUSION: Among children exposed to maternal MA use during pregnancy, specific developmental and behavioral deficits were increased when compared to controls. This correlates well with available literature. Larger sample sizes would help further support these findings and more definitively distinguish behavioral deficits.
Asunto(s)
Trastornos Relacionados con Anfetaminas/epidemiología , Trastornos de la Conducta Infantil/epidemiología , Discapacidades del Desarrollo/epidemiología , Metanfetamina/efectos adversos , Efectos Tardíos de la Exposición Prenatal/epidemiología , Trastornos Relacionados con Anfetaminas/diagnóstico , Trastornos de la Conducta Infantil/diagnóstico , Preescolar , Estudios de Cohortes , Discapacidades del Desarrollo/diagnóstico , Femenino , Humanos , Masculino , Proyectos Piloto , Embarazo , Efectos Tardíos de la Exposición Prenatal/diagnóstico , Estudios Prospectivos , Encuestas y Cuestionarios , Factores de TiempoRESUMEN
We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. These patients illustrate the importance of genetic testing and prepregnancy counseling. In addition, they demonstrate the need for a multidisciplinary team approach in their management.
Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Distrofia Muscular de Duchenne/diagnóstico , Adolescente , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/genética , Hiperplasia Suprarrenal Congénita/terapia , Insuficiencia Suprarrenal , Errores Innatos del Metabolismo de los Carbohidratos/diagnóstico , Errores Innatos del Metabolismo de los Carbohidratos/genética , Errores Innatos del Metabolismo de los Carbohidratos/terapia , Niño , Diagnóstico Diferencial , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Glicerol Quinasa/deficiencia , Glicerol Quinasa/genética , Humanos , Insuficiencia Corticosuprarrenal Familiar , Masculino , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , SíndromeRESUMEN
Three patients (2 boys) presented with nontraumatic congenital lesions of the spinal cord resulting in paralysis and contractures of their upper limbs from birth. Limited improvement occurred in all. Two survived. One patient required ventilation support after birth; his upper limbs had lower motor neuron flaccid paralysis, and his lower limbs evolved to pyramidal tract impairment. He died at 9 months of age with an intercurrent chest infection. The other 2 patients had lower motor neuron pathology in their upper limbs and normal lower limb function. One of these patients attained ambulation. All 3 patients retained normal higher mental function. Neuroimaging of the spinal cord from the most affected patient demonstrated atrophy of the cervical and high thoracic regions (C4-T3). Spinal neuroimaging results from the less affected patient were normal. Multidisciplinary management assisted these children to reach their full potential in a resource-poor setting. The etiology of focal pathology to the cervical region in these infants with congenital nontraumatic insults remains undefined, similar to the few cases in the literature. The diverse pathogeneses are hypothesized and the literature reviewed.
Asunto(s)
Parálisis/etiología , Enfermedades de la Médula Espinal/complicaciones , Médula Espinal/patología , Atrofia , Vértebras Cervicales , Niño , Período Crítico Psicológico , Femenino , Humanos , Lactante , Masculino , Enfermedades de la Médula Espinal/congénito , Vértebras TorácicasRESUMEN
Forty-eight children with neurofibromatosis 1 presenting between 2000 and 2004 were reviewed for their clinical phenotype, and data were compared with published reports. The median age at presentation was 4 years (range 10 days to 12 years). The male to female ratio was similar (22 male:26 female). There were frequencies of café au lait spots, axillary freckling, Lisch nodules, and new mutations comparable to those cited in the literature. Fewer patients had neurofibromas (4%), but more patients had plexiform neurofibromas of the head and neck (16%). Three patients of the 22 who had neuroimaging had optic gliomas (14%). The most consistent disability, with maximum impact, related to the patient's cognitive level of functioning. School problems, defined as learning and behavioral problems observed in the classroom, were reported in 70% of school-aged children (n = 21), compared with international figures of 29.8% to 45%. This high prevalence has reinforced the clinic service policy of formal neuropsychology assessments in all children with reported school problems. In addition, earlier referral of children to the service (preschool n = 18) has enabled formal developmental assessments and planning of specific educational placement to optimize learning. This is the first description of the neurofibromatosis 1 phenotype from the African continent. The multidisciplinary approach to management has proved beneficial in the South African context. The combined clinic has resulted in a holistic approach to patient care, early detection of pathology, consistent therapies across the specialties, and better patient attendance and compliance. (J Child Neurol 2006;21:63-70).