Search

Aim To investigate the prevalence, characteristics, and risk factors of hip pain in adolescents with cerebral palsy (CP) and compare the findings with those of the same individuals 5 years earlier. Method Sixty‐seven adolescents (28 females, 39 males; mean age 14y 7mo; SD 1y 5mo; range 12–17y) with bilateral CP, in Gross Motor Function Classification System (GMFCS) levels III to V enrolled in a CP surveillance programme were assessed for hip pain. Their caregivers responded to the questions on the intensity and frequency of hip pain from the Child Health Questionnaire (CHQ) (transformed to CHQ hip pain score; 100 indicates no pain). Interference of hip pain with daily activities and sleep was recorded on numeric rating scales. Hip displacement was measured radiographically by the migration percentage. Results Twenty‐eight participants had 44 painful hips. Their mean CHQ hip pain score was 40 (SD 21.4; range 10–80). Independent risk factors for hip pain, low CHQ hip pain score, and interference with sleep were severe hip subluxation (migration percentage 50–89%) and GMFCS level V. A migration percentage of 50% to 89% was the only independent risk factor for interference with daily activities. Over 5 years, the number of participants with hip pain increased from 18 to 28, while the mean migration percentage of the most displaced hip was unchanged. Interpretation Our CP hip surveillance programme did not protect the participants against increasing prevalence of hip pain during adolescence. We suggest that surveillance programmes for CP should include guidelines on the characteristics and management of hip pain. What this paper adds Hip pain prevalence increased in adolescents over a 5‐year period in a cerebral palsy surveillance programme.Risk factors for hip pain were Gross Motor Function Classification System level V and severe hip subluxation., What this paper adds Hip pain prevalence increased in adolescents over a 5‐year period in a cerebral palsy surveillance programme.Risk factors for hip pain were Gross Motor Function Classification System level V and severe hip subluxation.

Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar ataxia, molar tooth sign on magnetic resonance imaging scans, and polydactyly. We identified biallelic loss‐of‐function (LOF) variants in CBY1, segregating with the clinical features of Joubert syndrome in the families. CBY1 localizes to the distal end of the mother centriole, contributing to the formation and function of cilia. In accordance with the clinical and mutational findings in the affected individuals, we demonstrated that depletion of Cby1 in zebrafish causes ciliopathy‐related phenotypes. Levels of CBY1 transcript were found reduced in the patients compared with controls, suggesting degradation of the mutated transcript through nonsense‐mediated messenger RNA decay. Accordingly, we could detect CBY1 protein in fibroblasts from controls, but not from patients by immunofluorescence. Furthermore, we observed reduced ability to ciliate, increased ciliary length, and reduced levels of the ciliary proteins AHI1 and ARL13B in patient fibroblasts. Our data show that CBY1 LOF‐variants cause a ciliopathy with features of Joubert syndrome.

Objective: The aims of the present study were to compare fatigue levels in children with pediatric acquired brain injury (pABI) with healthy controls (HCs), and examine the interplay of fatigue with associated factors. Method: We used baseline data from a preregistered randomized controlled trial. Seventy-six children aged 10-17 (median 13 years) with pABI in the chronic phase (88% with confirmatory cerebral imaging findings) and executive function (EF) complaints were included, most with moderate disability according to The Glasgow Outcome Scale Extended (GOSE-E) categorization. HCs consisted of 60 children aged 10-17 (median 13 years). All 127 participants completed measures of fatigue and intelligence. pABI participants were also assessed for behavioral problems, health-related quality of life (HRQoL), and EF. Nonparametric statistics were employed, in addition to a network analysis to model the unique associations between parent-reported fatigue and related factors. Results: Parents reported significantly more fatigue in the pABI-group (75% of scores in clinical range

Gorlin syndrome is a rare genetic condition in which patients may develop medulloblastomas, jaw cysts and basal cell carcinomas and show congenital skeletal malformations. If left undiagnosed, Gorlin syndrome can have a number of negative consequences. Early diagnosis and good follow-up is important for all patients with rare disorders. We wish to make doctors and dentists aware of Gorlin syndrome so that, whenever the syndrome is suspected or a patient has been diagnosed, the patient is referred for assessment, treatment and follow-up by specialists who know the disorder well. Dermatology departments at university hospitals and departments of medical genetics have a key role to play in assessment and follow-up. A national support group for Gorlin syndrome has been established, consisting of a dermatologist, oncologist, geneticist, paediatrician, specialist dentist, ophthalmologist, orthopaedic surgeon, plastic surgeon, oral and maxillofacial surgeon and counsellors. Patients, relatives and health professionals can contact the Centre for Rare Disorders directly for information about Gorlin syndrome, or to be put in touch with members of the group.

Gorlin syndrome is a rare genetic condition in which patients may develop medulloblastomas, jaw cysts and basal cell carcinomas and show congenital skeletal malformations. If left undiagnosed, Gorlin syndrome can have a number of negative consequences. Early diagnosis and good follow-up is important for all patients with rare disorders. We wish to make doctors and dentists aware of Gorlin syndrome so that, whenever the syndrome is suspected or a patient has been diagnosed, the patient is referred for assessment, treatment and follow-up by specialists who know the disorder well. Dermatology departments at university hospitals and departments of medical genetics have a key role to play in assessment and follow-up. A national support group for Gorlin syndrome has been established, consisting of a dermatologist, oncologist, geneticist, paediatrician, specialist dentist, ophthalmologist, orthopaedic surgeon, plastic surgeon, oral and maxillofacial surgeon and counsellors. Patients, relatives and health professionals can contact the Centre for Rare Disorders directly for information about Gorlin syndrome, or to be put in touch with members of the group.