Factors related to psychosocial quality of life for children with cerebral palsy.

Background. Current health services interventions focus on the treatment of the musculoskeletal impairments of cerebral palsy (CP). The goal of this study was to explore whether the severity of physical symptoms correlates with psychosocial quality of life (QOL) among pediatric patients with CP. Methods. A sample of 53 caregivers of children with CP was surveyed and health status information was extracted from patient medical records. Descriptive analysis explored the association between the main outcome variable, psychosocial QOL (CP QOL-child), and patient demographics, comorbidity (e.g., visual, hearing and feeding impairments, language delays, and epilepsy), CP severity (GMFCS), and the receipt of family centered care (MPOC-20). Results. Child psychosocial QOL decreased with increasing comorbidity but was not associated with CP symptom severity or any measured demographic factors. Reporting high levels of family centered care (FCC) was associated with higher psychosocial QOL in univariate analysis but was not significant when controlling for comorbidities. Conclusion. There is no clear connection between symptom severity and psychosocial QOL in children with CP. Comorbidity however is strongly associated with psychosocial QOL. Focusing on reducing CP comorbidities could have a positive impact on psychosocial QOL.

Screening of male patients with autism spectrum disorder for creatine transporter deficiency.

Creatine deficiency syndromes (CDS) are newly identified genetic disorders that result in neurological impairment of cognition and communication. The purpose of our study was to screen 100 male subjects with autism spectrum disorder for mutations in the SLC6A8 gene in order to determine the frequency of this genetic disorder in this population. One hundred males ages 3-18 years diagnosed with autism spectrum disorder based on DSM-IV criteria were recruited. DNA sequence analysis was performed on all subjects for creatine transporter gene (SLC6A8) defects. One subject had a novel unclassified variant in the SLC6A8 gene exon 13: c.1890G>C. Given that autistic features are found in a number of patients with CDS, SLC6A8 deficiency as well as the treatable forms of CDS should be included in the differential diagnosis of patients with autism spectrum disorder.

Congenital creatine transporter deficiency.

BACKGROUND: Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6A8) deficiency have been recognized. This report describes the features of five identified male patients and their female relatives who are carriers of the X-linked creatine transporter deficiency syndrome. METHODS: Proton MR spectroscopy was used to recognize creatine deficiency in the patients. Molecular analysis of the SLC6A8 gene was performed, confirming the diagnosis of homozygous males and heterozygous females. RESULTS: We describe four families from a metropolitan area in the U. S. with X-linked creatine transporter deficiency. All affected males present with developmental delay and severe developmental language impairment. Proton MR spectroscopy shows significantly depressed to essentially absent creatine and phosphocreatine in the male patients. Nonsense mutations and amino acid deletions were found in the SLC6A8 gene in the affected families. CONCLUSION: Creatine transporter deficiency may be a more common X-linked genetic disorder than originally presumed. The affected males exhibit mental retardation with severe expressive language impairment.