Burden of Disease of Duchenne Muscular Dystrophy in Denmark - A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives.

Background: Duchenne Muscular Dystrophy (DMD) is a progressive genetic disease with a prevalence of 1 per 3,600-6,000 male births. Individuals with DMD are typically diagnosed at age 4-7 years; median survival is 30 years. They require multidisciplinary care, personal assistance, and often special education.

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.

Disease causing variants in the Ryanodine receptor 1 (RYR1) gene are a common cause for congenital myopathy and for malignant hyperthermia susceptibility. We report a 17 year old boy with congenital muscle weakness progressing to a myasthenia like myopathy with muscle weakness, fatigability, ptosis, and ophthalmoplegia. Muscle biopsy showed predominance and atrophy of type 1 fibers.

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.

Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1.

Parents' Assessment of Disability in Their Children With Down Syndrome.

Aim: To describe a population of children with Down syndrome and evaluate their parents' assessment of disability.

Methods: Medical records of a population of 80 children with Down syndrome aged 5 to 17 years were analyzed for genetic background and associated diagnoses. And 27 parents to their children agreed to assess disability by employing a set of 26 International Classification of Functioning, Disability and Health body function (b) codes and activity and participation (d) codes.

Parents' Expressions of Concerns and Hopes for the Future and Their Concomitant Assessments of Disability in Their Children.

Aim: To assess parents' ability to express their concerns and hopes for the future in their children with disability and assess their children's disability as well as to analyse these data for consistency.

Method: Parents of 162 children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, visual impairment, hearing impairment, mental disability, or disability following brain tumours were asked to freely express their concerns and hopes for the future and to assess disability in their own children by employing a set of 26 International Classification of Functioning, Disability and Health, Children and Youth Version (ICF-CY) body function (b) codes and activity and participation (d) codes. A grounded theory approach was employed to systematize parents' expressions of concerns and hopes; then, parents scored qualifiers on a 5-step qualitative Likert scale.

Is MED13L-related intellectual disability a recognizable syndrome?

Introduction: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenotypical and genetic aspects of previously described patients.

Materials And Methods: In the search for genetic aberrations in individuals with ID, two of the patients were identified by chromosomal microarray analysis, and five by exome sequencing.

Parents' Assessments of Disability in Their Children Using World Health Organization International Classification of Functioning, Disability and Health, Child and Youth Version Joined Body Functions and Activity Codes Related to Everyday Life.

Aim: To help parents assess disability in their own children using World Health Organization (WHO) International Classification of Functioning, Disability and Health, Child and Youth Version (ICF-CY) code qualifier scoring and to assess the validity and reliability of the data sets obtained.

Method: Parents of 162 children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, visual impairment, hearing impairment, mental disability, or disability following brain tumours performed scoring for 26 body functions qualifiers (b codes) and activities and participation qualifiers (d codes). Scoring was repeated after 6 months.

Environmental needs in childhood disability analysed by the WHO ICF, Child and Youth Version.

Introduction: The WHO has launched a common classification for disabilities in children, the International Classification of Functioning, Disability and Health, Child and Youth Version (ICF-CY). We wanted to determine whether cat-egories of the environmental (e) and the body functions (b) components of the classification could address environmental needs in children with different disorders and various disability severities.

Methods: A set of 16 e categories and 47 b categories were selected and worded to best enable parents to describe children's everyday support needs and environmental influences through interviews in their own homes.

Assessing Children With Disabilities Using WHO International Classification of Functioning, Disability and Health Child and Youth Version Activities and Participation D Codes.

Aim: Evaluation of the International Classification of Functioning, Disability and Health child and youth version (ICF-CY) activities and participation d code functions in clinical practice with children across diagnoses, disabilities, ages, and genders.

Methods: A set of 57 codes were selected and worded to describe children's support needs in everyday life. Parents of children aged 1 to 15 years participated in interviews to discuss and rate their child's disability.

Positive experience with intrathecal baclofen treatment in children with severe cerebral palsy.

Introduction: Treatment of severe spasticity and dystonia with intrathecal baclofen (ITB) in children has been shown to be effective and has therefore been employed in the Region of Southern Denmark. The aim of this retrospective study was to analyse the efficacy and adverse events since ITB was introduced in 2003.

Methods: A total of 46 children who had a baclofen pump from April 2003 to January 2013 were included.

The Nordic Five to Fifteen questionnaire could provide the basis for a common neurological disability variable.

Aims: Assessing disabilities in children is essential and Danish parents provide increasingly important feedback on how their child's disability affects daily living. The Nordic Five to Fifteen (FTF) parent questionnaire is widely used in Nordic countries to detect atypical or delayed development in children. Our study evaluated its internal validity and whether it could be used to generate a common disability variable across childhood neurological disorders and severities.

[Neurofibroma of the larynx in a nine month-old child].

Neurofibroma of the larynx is a very rare condition. A nine month-old boy presented with airway obstruction due to a plexiform neurofibroma of the larynx. It also involved the proximal part of trachea and hypopharynx.

Symptoms and time to diagnosis in children with brain tumours.

Introduction: Clinical symptoms in brain tumours in children are variable at onset and diagnosis is often delayed. Symptoms were investigated with regard to brain tumour localisation, prediagnostic symptomatic intervals and malignancy.

Material And Methods: Clinical data from children aged 0-17 years from Southern Denmark were analysed retrospectively and the results were correlated with data on prehospital symptoms obtained from interviews with parents and general practitioners.

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.

The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identified a missense mutation in KLF1 of patients with a hitherto unclassified CDA. KLF1 is an erythroid transcription factor, and extensive studies in mouse models have shown that it plays a critical role in the expression of globin genes, but also in the expression of a wide spectrum of genes potentially essential for erythropoiesis.

Spinal cord injury at birth: a hidden causative factor.

Unlabelled: A case of perinatally acquired spinal cord injury (SCI) is presented. The foetus was vigorous until birth, the breech presented and delivery was performed by a non-traumatic Caesarean section. The infant displayed symptoms of severe SCI but diagnosis was delayed due to severe co-morbidity.

[Oesteogenesis imperfecta--genetics, diagnosis and medical treatment].

The molecular background for osteogenesis imperfecta (OI) is mutations in one of the two genes (COL1A1 and COL1A2) encoding collagen I. The disease is characterised by varying degrees of fragile bones, retarded growth, bone deformities, tooth abnormalities, blue sclerae, and hearing loss. Treatment with bisphosphonates reduces the incidence of fractures in children with severe OI, while this still remains to be demonstrated in adults.

[Rhizotomy for children with severe spastic cerebral palsy].

Introduction: Severe spasticity is a limiting factor for motor development in children with spastic cerebral palsy. Botulinum toxin, intrathecal baclofen and peroral baclofen all reduce spasticity but might also limit improvements in functional development over time. In the selective dorsal or posterior rhizotomy (SDR) approach, afferent sensory nerve fibers are cut while efferent motor fibers are preserved.

[Intrathecal baclofen in the treatment of severe spastic tetraplegia and dystonia in children and adolescents].

Introduction: Continuous intrathecal baclofen has been used over the past years especially in adult patients with spasticity of spinal origin. Children and young adults with severe spasticity and dystonia of cerebral origin are difficult to treat in spite of optimal systemic antispasmotic therapy with baclofen, tizanidine, dantrolene and/or diazepam. Intrathecal baclofen has therefore been applied in a group of young patients.

[Beta-thalassemia major in children and adolescents in Denmark].

Introduction: Beta-thalassemia major occurs with increasing frequency among Danish children as a result of immigration. The aim of the study was to estimate the occurrence of beta-thalassemia major in Denmark, analyse the treatment and organ functions, and identify areas for an improved treatment strategy.

Material And Methods: During 1998-99 all Danish pediatric departments were contacted for identification of children aged 0-18 years with beta-thalassemia major.