A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations. From the pedigree, two female patients were referred for DMD investigation due to chronic myopathy and a muscle biopsy compatible with dystrophinopathy.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders mainly characterized by progressive spasticity of the lower limbs. Adult case series dominate the literature, and there have been only a few studies in children. The purpose of this study is to describe our experience with pediatric HSP in Greece.

Miller-Fisher syndrome in association with enterovirus infection.

Miller-Fisher is a rare syndrome of childhood that presents with external ophthalmoplegia, ataxia, and areflexia. It has been mainly associated with a preceding Campylobacter infection and less commonly with other bacterial or viral infections. This report describes, for the first time, a child with Miller-Fisher syndrome and documented Enterovirus infection, as it was proven by the isolation of Enterovirus from cerebrospinal fluid by polymerase chain reaction testing.

Inattention, hyperactivity, impulsivity--epidemiology and correlations: a nationwide greek study from birth to 18 years.

We examined the prevalence of inattention, hyperactivity, and impulsivity (attention-deficit hyperactivity disorder [ADHD]-like symptoms) at 7 and 18 years in a Greek birth cohort, and associated factors. Information was derived from a representative sample of 2695 Greek individuals followed-up from birth to18 years through 3 questionnaire surveys (1983, 1990, 2001). At 7 years, the prevalence of hyperactivity was 7%, inattention 9.

Tracking of overweight and obesity in Greek youth.

Objectives: The aim of this study was to determine the prevalence and tracking of overweight and obesity in a representative sample of Greek youth and the relation with child and parental factors.

Methods: Data were derived from 2 follow-ups of the Greek 1983 National Perinatal Survey by means of a questionnaire completed by parents in 1990 and parents/adolescents in 2001. Parent- and self-reported height and weight measurements were available for 7,219 participants aged 7, and 2,842 participants aged 18.

Childhood optic neuritis clinical features and outcome.

Aim: To describe clinical features and outcome of a series of children with first-episode optic neuritis investigated in three paediatric neurology centres.

Methods: Databases were searched to identify children (<16 years) with optic neuritis and life table analysis was used.

Results: 44 children (female/male ratio 1.

Trihexyphenidyl for acute life-threatening episodes due to a dystonic movement disorder in Rett syndrome.

In Rett syndrome (RS), acute life-threatening episodes (ALTEs) are usually attributed to epilepsy or autonomic dysfunction but they can represent a movement disorder (MD). We describe three girls with RS who experienced ALTEs from an early age. These were long considered epileptic until video-EEG in Patients 1 and 3 revealed their non-epileptic nature.

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.

Aim: Mutations in the SLC16A2 gene have been implicated in Allan-Herndon-Dudley syndrome (AHDS), an X-linked learning disability* syndrome associated with thyroid function test (TFT) abnormalities. Delayed myelination is a non-specific finding in individuals with learning disability whose genetic basis is often uncertain. The aim of this study was to describe neuroimaging findings and neurological features in males with SLC16A2 gene mutations.

Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family.

Acute necrotizing encephalopathy (ANE) typically affects young, healthy children who develop rapid-onset severe encephalopathy triggered by viral infections. This disease is more commonly reported in Japan but occurs worldwide, although it remains under-recognized in Western countries. An autosomal dominant form, ANE1, was recently identified.

Can we be optimistic about asthma in childhood? A Greek cohort study.

Objective: To examine the prevalence and natural course of asthma from childhood to adolescence in a population-based, Greek birth cohort and to identify associated factors.

Methods: Longitudinal information on asthma symptoms, physician diagnosed and treated, was available for 2133 children at 7 and 18 years of age.

Results: The prevalence of current asthma was 9.

Parental stress affects the emotions and behaviour of children up to adolescence: a Greek prospective, longitudinal study.

Systematic research about the continuity of mental health problems from childhood to adolescence is limited, but necessary to design effective prevention and intervention strategies. We used a population-based representative sample of Greek adolescents, followed-up from birth to the age of 18 years, to assess early influences on and the persistence of mental health problems in youth. We examined the role of peripartum, early development and parental characteristics in predicting mental health problems in childhood and adolescence.

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait.

The generation gap in numbers: parent-child disagreement on youth's emotional and behavioral problems: a Greek community based-survey.

Objective: To evaluate discrepancies between parent and child reports on youth's emotional and behavioral problems in a representative, community based sample of Greek 18-year-olds, and to identify associated factors.

Methods: A total of 2,927 completed pairs of parent-child questionnaires were studied, including the child behavior checklist (CBCL) and the youth self-report (YSR). Linear regression analysis was used to identify both child and parental characteristics significantly associated with parent/child disagreement on scores for youth's Internalising, Externalising and Total problems scales for both genders separately.

A novel GLRA1 mutation in a recessive hyperekplexia pedigree.

We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.