There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from two investigations. One was an epidemiologic study originally designed to assess the prevalence and etiology of mental retardation among 30,037 Norwegian children born between 1980 and 1985 and living in Akershus County on January 1, 1993. The other investigation was a national survey of Williams syndrome. In the first study, 213 children were referred for evaluation, whereas the second study comprised 57 cases with Williams syndrome born between 1970 and 1992, who were referred for evaluation from all Norwegian counties. The epidemiologic study revealed three children with Williams syndrome, whereas one additional case complying with our demographic criteria was identified in the national survey, thus giving a prevalence of 1 in 7500. In all cases, a typical chromosome 7q11.23 deletion was detected. We also conclude that Williams syndrome is not an uncommon cause of mental retardation, with a prevalence of approximately 6% of patients with genetic etiology.

CHQ Child Health Questionnaire FPS-R Faces Pain Scale-Revised AIM The aim of this study was to explore the prevalence, predictors, severity, and impact of recurrent musculoskeletal pain in children and adolescents with cerebral palsy (CP).METHOD One hundred and fifty-three participants (81 males, 72 females) aged 8 to 18 years were assessed by clinical examination, interview, and questionnaires. CP type distribution was 38% unilateral spastic, 55% bilateral spastic, 6% dyskinetic, and 1% ataxic. Gross Motor Function Classification System (GMFCS) levels were as follows: level I, 54; level II, 56; level III,20; level IV,8; and level V,15. Sixty-four children and 89 parents recorded pain on the Child Health Questionnaire, 56 children and 85 parents indicated impact of pain on 0 to 10 numeric rating scales, and 72 children indicated pain intensity on the Faces Pain Scale-Revised.RESULTS Ninety-five (62%) children across all GMFCS levels experienced recurrent musculoskeletal pain. Age above 14 years was the only significant predictor (OR 2.90, 95% CI 1.22-7.80, p=0.02, adjusted for sex, CP type, gross motor function and mother's education). Children reported recurrent musculoskeletal pain to be moderate. Parents reported pain to be more severe and with higher impact on sleep than their children did. Children and parents reported similar impact of pain on general activity and walking.INTERPRETATION Recurrent musculoskeletal pain is the dominating pain problem in children and adolescents with CP. Monitoring of musculoskeletal pain should be part of the medical follow-up across the whole range of motor impairment.Musculoskeletal pain is common in children with cerebral palsy (CP) and is also associated with lower quality of life in all domains.1 The problem increases with age. 2 Common body regions involved are the limbs, back, and neck. 3,4 Recognition is important because untreated or undertreated nociceptive pain in childhood may predispose to persisting pain in adulthood through conditioning 2 or through the generation of neuropathic pain, as stimulation of nociceptors may result in changes in the nervous system leading to chronic pain states. 4 The International Association for the Study of Pain defines chronic pain as 'an unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage'. 5 The term musculoskeletal pain reflects actual or potential damage of musculoskeletal tissue, but it is an ambiguous concept beyond the anatomical specification, and a diagnosis of musculoskeletal pain has to rely on clinical parameters. In CP, muscle overuse, strain caused by involuntary movements, immobilization, and atypical joint compression from the imbalance of muscle activation across joints are all recognized as potential aetiological factors of nociceptive pain.6 Pain may also be related to health care procedures such as assisted stretching, needle injections, or range of motion manipulation. 7The subjective perception of the individual is the other key ...

In CP, the importance of child-report on mental health and HRQL when possible, in addition to parent proxy-report, cannot be overstated. Close co-operation between (re)habilitation and child psychiatry is urgent. Further research on self-reported mental health and impact of mental health problems is warranted together with a focus on the impact of recurrent musculoskeletal pain on participation.

Aim  The aim of the study was to explore the contribution of recurrent musculoskeletal pain and mental health to aspects of participation in children with cerebral palsy (CP). Method  A total of 105 participants (54 males, 51 females); mean age 14y (SD 3) were assessed by clinical examination, interview, and parental questionnaires. CP type distribution was as follows: spastic unilateral, 37%; spastic bilateral, 56%; and dyskinetic, 7%. Motor function assessed using the Gross Motor Function Classification System was level I, 33%; level II, 40%; level III, 15%; and level IV/V, 11%. Parents reported child participation using the Assessment of Life Habits, child mental health problems using the Strengths and Difficulties Questionnaire, their own mental health using the General Health Questionnaire, and their socioeconomic status. Results  Recurrent musculoskeletal pain was associated with reduced accomplishment of daily activities (B=−1.22, p=0.02) and social roles (B=−1.17, p=0.03), and with reduced parental satisfaction with the accomplishment of daily activities (B=−1.14, p=0.03) and social roles (B=−1.48, p<0.01). Increasing levels of child mental health problems was associated with reduced accomplishment of daily activities (B=−0.10, p=0.02) and social roles (B=−0.11, p<0.01), and with reduced parental satisfaction with the accomplishment of social roles (B=−0.21, p<0.01). Interpretation  Pain and child mental health should be considered in most participation models in CP. Regarding participation as an objective outcome measure is questionable.

Background and purposeHip displacement is common in children with severe cerebral palsy (CP) and can cause problems such as pain, contractures, and nursing difficulties. Caregiver priorities and child health index of life with disabilities (CPCHILD) is a recently developed measure of health-related quality of life (HRQL) in children with severe CP. The associations between CPCHILD scores and hip displacement have not been investigated. We explored the effect of hip displacement on HRQL.Patients and methods67 children were recruited from the population-based Norwegian CP register. Mean age was 9 (7–12) years. There were 40 boys. Gross motor function classification system (GMFCS) distribution was 12 level III, 17 level IV, and 38 level V. Hip displacement was assessed by radiographic migration percentage (MP). The criterion for hip displacement was MP of the worst hip of ≥40%. Primary caregivers responded to 5 of the 6 domains of the CPCHILD questionnaire.ResultsHip displacement was found in 18 children and it was significantly associated with lower scores on the CPCHILD domains 3 (Comfort and Emotions) and 5 (Health), but not with domains 1 (Activities of Daily Living/Personal Care), 2 (Positioning, Transfer, and Mobility), and 6 (Overall Quality of Life). GMFCS level V was a significant predictor of low scores in all the domains.InterpretationFor the assessment of HRQL in children with severe CP and hip problems, we propose a modified and simplified version of the CPCHILD consisting of 14 of 37 questions. This would reduce the responders’ burden and probably increase the response rate in clinical studies without losing important information.