VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.

Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor.

Results: We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. The identified novel VIPAS39 pathological variants (c.

Sleep Measurement in Children-Are We on the Right Track?

Sleep plays a critical role in the development of healthy children. Detecting sleep and sleep disorders and the effectiveness of interventions for improving sleep in children require valid sleep measures. Assessment of sleep in children, in particular infants and young children, can be a quite challenging task.

Daylight Saving Time: Pros and Cons.

The original rationale for the adoption of daylight saving time (DST) was to conserve energy; however, the effects of DST on energy consumption are questionable or negligible. Conversely, there is substantial evidence that DST transitions have the cumulative effect on sleep deprivation with its adverse health effects. In light of current evidence, the European Commission in 2018 decided that biannual clock change in Europe would be abolished.

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families.

On the rise and fall of the apnea-hypopnea index: A historical review and critical appraisal.

The publication of "The Sleep Apnea Syndromes" by Guilleminault et al. in the 1970s hallmarked the discovery of a new disease entity involving serious health consequences. Obstructive sleep apnea was shown to be the most important disorder among the sleep apnea syndromes (SAS).

Cardiorespiratory parameters in newborns during sedation with chloral hydrate.

We commonly use chloral hydrate sedation in newborns, though its cardiorespiratory side effects have not yet been fully investigated. Our study aimed to analyze the impact of chloral hydrate on cardiorespiratory parameters in term newborns. We performed a prospective, pre-post single-arm interventional study in 42 term, respiratorily and hemodynamically stable newborns.

Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.

Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.

Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.

Background: Recent studies have shown that recessive mutations in the TBC1D24 gene cause a variety of epilepsy syndromes, DOORS syndrome and nonsyndromic deafness.

Methods/results: We report on two siblings with hypotonia, early-onset epileptic encephalopathy, and severe developmental delay. The patients presented with clonic and myoclonic jerks within 1 h after birth.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Objective: We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs).

Methods: We recruited a total of 328 patients with EOEE, including 67 patients with Ohtahara syndrome (OS) and 150 with West syndrome. SCN2A mutations were examined using high resolution melt analysis or whole exome sequencing.

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.

Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. We report a Slovene girl with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay. The patient presented with segmental myoclonic jerks at the age of 6 weeks, and infantile spasms at the age of 3.

Menkes kinky hair disease (Menkes syndrome). A case report.

Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others.