Clinical service use as people with Attention Deficit Hyperactivity Disorder transition into adolescence and adulthood: a prospective longitudinal study.

BACKGROUND: While Attention Deficit Hyperactivity Disorder (ADHD) often persists into adulthood, little is known about the needs and service use among adolescents and young adults with ADHD. The present study followed-up a cohort diagnosed with ADHD as children and assessed their: 1) needs, 2) correlates of contact with clinical services, and 3) experiences of transition from child to adult health services. METHODS: Ninety one young people aged 14-24 were recruited from the UK subset of the International Multi-Centre ADHD Genetics (IMAGE) Project. Affected young people and parents conducted face-to-face interviews and self-completion questionnaires including a modified version of the Client Services Receipt Inventory, The Barkley's ADHD rating scale, The Clinical Interview Schedule-Revised, and the Zarit Burden Interview. Changes in key need characteristics (e.g. ADHD symptoms and impairments) over a 3-year period were examined using fixed effect models. Generalised Estimating Equations (GEE) were used to explore how key characteristics (such as ADHD symptoms) were associated with contact with clinical services across the three years. RESULTS: At baseline 62 % met diagnostic criteria for ADHD and presented with a range of ADHD related impairments, psychiatric comorbidities, and significant caregiver burden. While ADHD symptoms and related impairments lessened significantly over the three years, psychiatric comorbidities and caregiver burden remained stable. The strongest correlate of contact with clinical services was age (OR 0.65 95 % CI 0.49-0.84) with the odds of reported contact with clinical services decreasing by 35 % for each year increase in age at baseline and by 25 % for each year increase in age over time. Only 9 % of the sample had experienced a transfer to adult services, with the majority reporting unmet needs in healthcare transition. CONCLUSIONS: Despite continuing needs, few were in contact with adult health services or had received sufficient help with transition between child and adult health services. The main determinant of health service use for adolescents and young adults with ADHD is age - not needs. Service models should address the needs of ADHD individuals who are no longer children.

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.

BACKGROUND: The pseudoautosomal short stature homeobox-containing (SHOX) gene encodes a homeodomain transcription factor involved in cell-cycle and growth regulation. SHOX/SHOX enhancers deletions cause short stature and skeletal abnormalities in a female-dominant fashion; duplications appear to be rare. Neurodevelopmental disorders (NDDs), such as autism spectrum disorders (ASDs), are complex disorders with high heritability and skewed sex ratio; several rare (<1% frequency) CNVs have been implicated in risk. METHODS: We analysed data from a discovery series of 90 adult ASD cases, who underwent clinical genetic testing by array-comparative genomic hybridisation (CGH). Twenty-seven individuals harboured CNV abnormalities, including two unrelated females with microduplications affecting SHOX. To determine the prevalence of SHOX duplications and delineate their associated phenotypic spectrum, we subsequently examined array-CGH data from a follow-up sample of 26 574 patients, including 18 857 with NDD (3541 with ASD). RESULTS: We found a significant enrichment of SHOX microduplications in the NDD cases (p=0.00036; OR 2.21) and, particularly, in those with ASD (p=9.18×10(-7); OR 3.63) compared with 12 594 population-based controls. SHOX duplications affecting the upstream or downstream enhancers were enriched only in females with NDD (p=0.0043; OR 2.69/p=0.00020; OR 7.20), but not in males (p=0.404; OR 1.38/p=0.096; OR 2.21). CONCLUSIONS: Microduplications at the SHOX locus are a low penetrance risk factor for ASD/NDD, with increased risk in both sexes. However, a concomitant duplication of SHOX enhancers may be required to trigger a NDD in females. Since specific SHOX isoforms are exclusively expressed in the developing foetal brain, this may reflect the pathogenic effect of altered SHOX protein dosage on neurodevelopment.

Caregiver burden as people with autism spectrum disorder and attention-deficit/hyperactivity disorder transition into adolescence and adulthood in the United Kingdom.

OBJECTIVE: There is increasing recognition that autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are associated with significant costs and burdens. However, research on their impact has focused mostly on the caregivers of young children; few studies have examined caregiver burden as children transition into adolescence and young adulthood, and no one has compared the impact of ASD to other neurodevelopmental disorders (e.g., ADHD). METHOD: We conducted an observational study of 192 families caring for a young person (aged 14 to 24 years) with a childhood diagnosis of ASD or ADHD (n = 101 and n = 91, respectively) in the United Kingdom. A modified stress-appraisal model was used to investigate the correlates of caregiver burden as a function of family background (parental education), primary stressors (symptoms), primary appraisal (need), and resources (use of services). RESULTS: Both disorders were associated with a high level of caregiver burden, but it was significantly greater in ASD. In both groups, caregiver burden was mainly explained by the affected young person's unmet need. Domains of unmet need most associated with caregiver burden in both groups included depression/anxiety and inappropriate behavior. Specific to ASD were significant associations between burden and unmet needs in domains such as social relationships and major mental health problems. CONCLUSIONS: Adolescence and young adulthood are associated with high levels of caregiver burden in both disorders; in ASD, the level is comparable to that reported by persons caring for individuals with a brain injury. Interventions are required to reduce caregiver burden in this population.

Can the Northwick Park Dependency Scale be translated to a Barthel Index?

OBJECTIVE: to develop and test an algorithm for conversion of the Northwick Park Dependency Scale (NPDS) to a Barthel Index. DESIGN AND SETTING: conversion criteria were developed to derive a Barthel Index from NPDS data. The criteria were then applied in two community-based datasets of NPDS and Barthel scores, gathered from carers/patients via postal questionnaires. A retrospective exploratory analysis (dataset A) was followed by prospective confirmatory analysis (dataset B). SUBJECTS: patients with neurological disabilities, mainly following acquired brain injury: dataset A (n = 225) and dataset B (n = 96). MAIN MEASURES: comparison of NPDS-derived Barthel scores with parallel directly rated Barthel scores. RESULTS: the exploratory analysis identified that one Barthel item ('Stairs') could not be derived from the NPDS items alone, and required minor adaptation of one of the five additional questions that are included to translate the NPDS into an assessment of community care needs (Northwick Park Care Needs Assessment, NPCNA). For the prospective confirmatory analysis, the NPCNA 'Stairs' question was adjusted to support full conversion. Very strong intraclass correlations were observed between the total 'direct' and 'derived' Barthel scores (0.97 (dataset A), 0.95 (dataset B), P<0.001); 95% limits of agreement ranged from -2.52 to 2.56 (dataset A) and -3.29-3.91 (dataset B). Item-by-item agreement (linear-weighted Cohen's kappa coefficients) ranged from 0.68 to 0.85 (dataset A) and 0.59-0.83 (dataset B), which represents 'substantial' to 'almost perfect' agreement. CONCLUSIONS: this study demonstrates that a Barthel Index can be reliably derived from NPDS and NPCNA data through a conversion algorithm which has now been built into the supporting software package.