Ajidd-American Journal on Intellectual and Developmental Disabilities最新文献

Intellectual disability (ID) and hearing loss are frequent comorbid conditions, although otological problems often go unnoticed until picked up by screening. In the hearing program of Special Olympics (SO), athletes with ID are screened for otological problems. By retrospective analysis of all SO meetings between 2007 and 2017, more than 100,000 screenings could be included. Cerumen impaction was found in 40.7%, middle ear problems in 29.5% of those who failed hearing screening, and hearing loss confirmation in 26.9%. Prevalences for different world regions and country income groups are provided. The results emphasize the high prevalence of hearing loss in this ID population. Awareness among health care workers and active screening are required to reduce health disparities among this disadvantaged population.

Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.

This article summarizes research focusing on communication skills of people with intellectual and developmental disabilities (IDD) who communicate primarily without speech, sign language, or augmentative communication. Importantly, developmental theories were emphasized as useful for interpreting communication in children and adults. These studies led to research aimed at developing improved assessments and interventions for individuals with IDD, who may have a variety of diagnoses. Future research is needed to facilitate more widespread use of these tools by clinicians and researchers.

Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic science and animal models to humans with FXS has proven difficult. These challenges have prompted the FXS field to organize to build interlocking projects to support initiatives to improve supportive care, make clinical research accessible to families, generate collaborative research on natural history and outcome measures, and create clinical trial consortia and novel trial designs.

Parents of 30 school-age children with Down syndrome participated in a small-scale randomized clinical trial of a behavioral sleep treatment designed specifically for children with Down syndrome. The aim was to improve child sleep, child daytime behavior problems, caregiver sleep, and caregiver stress. The intervention spanned 5-8 weeks, and assessments occurred pre-treatment, immediately post-treatment, and three months post-treatment using a double-blinded design. Both the active treatment and a treatment-as-usual attention-controlled comparison group showed improvements in actigraphy and parent-report measures of child sleep, parent-reported child internalizing behaviors, and actigraphy measures of parent-sleep. The behavioral sleep treatment did not yield significantly different outcomes than a treatment-as-usual approach supplemented with non-sleep-specific behavioral or education sessions. Possible interpretations of study findings are discussed.

To evaluate effects of psychotropic medication for children with disabilities, direct assessments may offer a valuable supplement to caregiver reports. Relative to indirect assessment, direct measures of behavior can increase objectivity and sensitivity, and some have potential to isolate distinct behavioral and learning processes. We conducted a systematic, narrative literature review to identify and describe the types and qualities of direct assessment methods that have been used to evaluate effects of non-stimulant psychotropic medication for children with disabilities. We identified 50 studies and 78 direct assessments, which we organized and described using seven assessment categories. Only one study met all three direct assessment quality indicators. We use our descriptive results to highlight research trends and gaps that warrant further study.