Content Validity of the ADHD Rating Scale (ADHD RS-IV) and Adult ADHD Self-Report Scale (ASRS) in Phenylketonuria

Abstract The ADHD Rating Scale (ADHD RS-IV; parent report) and Adult ADHD Self-Rating Scale (ASRS; self-report) are validated instruments for measuring symptoms of attention-deficit/hyperactivity disorder (ADHD). The objectives of this study were to elicit descriptions of phenylketonuria (PKU) symptoms and assess content validity of these instruments in PKU. Parents (N = 15) of children with PKU (?8 years old) and adults with PKU (N=13) described PKU-related symptoms and commented on the scale's clarity, comprehensiveness, and relevance to their experience with PKU. Most of the adults (84.6%) and all of the children were on a phenylalanine-restricted diet, according to respondent report. The inattentiveness symptoms reported by participants mapped to the inattentive items of the questionnaires. Most participants felt the inattentive items were clear and relevant to their experience. Despite study design limitations, these results demonstrate the relevance of assessing inattentiveness in PKU, and both instruments achieved content validity for inattentive subscale items.

Young adults with MSUD and their transition to adulthood: psychosocial issues.

Maple Syrup Urine Disease (MSUD) is an autosomal recessive condition with an incidence of 1 in 185,000 births worldwide. Regardless of the type of MSUD, treatment includes immediate and lifelong dietary restriction of isoleucine, leucine and valine. There is little known about the psychosocial impact of MSUD on the developmental milestones of emerging adulthood. We used a qualitative case study approach to explore the human experiences of MSUD on young adults (n = 8) and parents (n = 8). All participants were administered a semi-structured, qualitative interview as well as quantitative measures. Six core themes emerged: 1) lifelong strain of dietary management; 2) social isolation from peers and impact on dating; 3) impact of MSUD on academics and employment; 4) medical experiences and transition to adult care; 5) impact on family functioning; and 6) positive effects and growth. The results of this investigation highlight and expand awareness of the psychological and social needs of young adults with MSUD. This study calls for a collaborative, multidisciplinary effort in the treatment of these patients and their families.