What activities individuals with intellectual disabilities do for fun: exploration into self-care.

Participation in enjoyable activities is instrumental to improving individuals' quality of life. Previous studies have indicated engagement in community-based activities and physical exercise are beneficial to individuals with intellectual disabilities (ID). The purpose of this study was to understand, from their perceptions, fun activities in which individuals with ID engaged.

Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, add-on trial.

This is a multicenter, open-label, add-on trial, investigating the safety and efficacy of ganaxolone (GNX) in a population of children with refractory infantile spasms, or with continuing seizures after a prior history of infantile spasms. A total of 20 children aged 7 months to 7 years were enrolled in this dose-escalation study, after baseline seizure frequencies were established. Concomitant antiepilepsy drugs were maintained throughout the study period.

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Objectives: To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients.

Patients: The clinical features of 23 patients (20 families) with SSADH deficiency (4-hydroxybutyric acid-uria) are presented. The age at diagnosis ranged from 3 months to 25 years in the 11 male and 12 female patients; consanguinity was noted in 39% of families.

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.

The mitochondrial DNA (mtDNA) point mutation T8993G has been associated with maternally inherited Leigh syndrome (MILS) when very abundant (> 95%). MILS patients are usually severely affected and die in early infancy. In 1993, a novel T8993C point mutation was described in a juvenile form of Leigh syndrome (LS) characterized by a less aggressive clinical course.

Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.

We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association with OPD II. This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II.

Use of botulinum toxin to treat blepharospasm in a 16-year-old with a dystonic syndrome.

A 16-year-old boy with generalized dystonia had continuous, severe blepharospasm and facial grimacing. Local intradermal injections of botulinum A toxin greatly reduced the spasms and improved function. No side effects were observed.

Review article: mucolipidosis IV.

We review all reported cases of Mucolipidosis IV, add a new one, and present evidence for a generalized phospholipid storage. All phospholipids were increased in the liver, skin fibroblasts and urine. Lysobisphosphatydic acid which was markedly elevated in these samples was the only lipid stored in muscle.

Hemodynamic changes during prostatectomy in cardiac patients.

Hemodynamic responses to transurethral prostatectomy (TURP) were studied in 9 patients with severe cardiac disease. This group of patients tolerated spinal anesthesia and TURP in an unpredictable manner. One adverse effect was the high pulmonary capillary wedge pressures (WP of 21 mm Hg or higher) in 4 of the 9 patients during operation.