Search
Research
Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency DisorderOur study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
Research
What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analysesThere remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
Research
Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort studyPeople with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives
Research
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.
Research
A qualitative investigation of recovery after femoral fracture in Rett syndromeThis study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.
Research
Lack of replication for the myosin-18B association with mathematical ability in independent cohortsTwin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular...
Research
Complementary and alternative medicine for autism spectrum disorders: Rationale, safety and efficacyThere is insufficient evidence to draw conclusions on the efficacy of modified diets, hyperbaric oxygen therapy, immune therapy, and vitamin and fatty acid...
Research
Family functioning in families with a child with Down syndrome: A mixed methods approachThis study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
Research
Expanding the clinical picture of the MECP2 Duplication syndromePerinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome