Exploring the Influence of Concurrent Nutritional Therapy on Children with Spinal Muscular Atrophy Receiving Nusinersen Treatment.

Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions on neurological outcomes, particularly motor functions. Methods Thirty-seven genetically diagnosed SMA patients (types 1, 2, and 3) under nusinersen therapy were included in the study.

Respiratory functions, respiratory muscle strength and fatigue in patients with pediatric-onset multiple sclerosis: a comparative cross-sectional study.

Purpose: To compare PwPOMS and healthy controls in terms of respiratory functions, respiratory muscle strength, and fatigue, and investigate the determining role of fatigue on respiratory parameters.

Methods: Twenty-five PwPOMS and 15 healthy controls were included in the study. Maximum inspiratory pressure (MIP) and expiratory pressures (MEP) were measured.

The effects of online exercise training on physical functions and quality of life in patients with pediatric-onset multiple sclerosis.

Background: Patients with pediatric-onset multiple sclerosis (PwPOMS) frequently experience motor, sensory, and cognitive problems. Although exercise is known to be effective in adult patients with MS, there are still no studies investigating the effectiveness of exercise in PwPOMS. To examine the effectiveness of online exercise training on physical activity, muscle strength, functionality, gait, fatigue, and quality of life in PwPOMS.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family.

The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy.

Background: Respiratory involvement is the main factor predicting the prognosis of spinal muscular atrophy (SMA). Significant responses in motor functions have been demonstrated with nusinersen, but pulmonary outcomes are still varied. We aimed to explore the effects of nusinersen on the respiratory functions of patients with SMA.

Six-Minute Walk Performance and Related Factors in Pediatric-Onset Multiple Sclerosis.

Objective: To investigate functional exercise capacity and its relationship between physical activity levels, muscle strength, balance, fatigue, and quality of life in patients with pediatric-onset multiple sclerosis.

Methods: Fifteen patients with pediatric-onset multiple sclerosis were included. The 6-minute walk test was used to determine functional exercise capacity and walking distance.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

Aim: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis.

Methods: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed.

Results: Of the 34 cases identified, 31 were confirmed (91.

The impact of SARS-CoV2 on the anxiety levels of subjects and on the anxiety and depression levels of their parents.

Background: The Severe Acute Respiratory Syndrome-CoV2 outbreak was announced a pandemic by the World Health Organization on March 11th, 2020. Both the pandemic itself and the restrictions were thought to create some psychological problems especially in patients with chronic illnesses such as Multiple Sclerosis (MS). This study was conducted to evaluate the impact of SARS-CoV2 pandemic on daily lives of children with MS, and the anxiety status of these patients and anxiety - depression status of their parents.

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Biallelic mutations in the gene are responsible for early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS). To date, three different allelic variants have been reported. Next-generation sequencing allowed discovery of unique alternations in this gene with different phenotypes.

Acquired Chiari I Malformation Secondary to Spontaneous Intracranial Hypotension Syndrome and Persistent Hypoglycemia: A Case Report.

Spontaneous intracranial hypotension (SIH) is a rare and potentially serious condition in childhood. Cerebrospinal fluid (CSF) volume depletion is thought to be the main causative feature for intracranial hypotension and results from a spontaneous CSF leak, often at the spine level. SIH is increasingly diagnosed in clinical practice, although it manifests a varied symptomatology.

Onychomadesis: A rare adverse effect in early-period valproic acid therapy.

Valproic acid is an effective, frequently used anticonvulsant drug. Typical adverse effects include weight gain, hair loss, and nausea. Hyperpigmentation, onycholysis, and onychomadesis are nail changes that can be seen after valproic acid use.

Non epileptic paroxysmal events in childhood.

Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy. The duration, place, timing of the attacks, and state of conciousness may confuse pediatricians about the diagnosis of epilepsy and non epileptic paroxysmal events. The key point in the diagnosis is taking an accurate and detailed history.

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.

Aims: To determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases.

Study Design: Case-control study.

Mixture models reveal multiple positional bias types in RNA-Seq data and lead to accurate transcript concentration estimates.

Accuracy of transcript quantification with RNA-Seq is negatively affected by positional fragment bias. This article introduces Mix2 (rd. "mixquare"), a transcript quantification method which uses a mixture of probability distributions to model and thereby neutralize the effects of positional fragment bias.

The impact of epilepsy on preschool children and their families.

This study investigated the possible presence of sensory-motor developmental impairments in preschool children with epilepsy and explored epilepsy impact on their activities and quality of life and on the stress load of their family. Study participants were children aged 2-6years diagnosed with epilepsy without any other comorbidities (epi-only children). The instruments used for assessment included the Neurological, Sensory, Motor, Developmental Assessment (NSMDA) scale for sensory-motor development, the Impact of Childhood Neurologic Disability Scale (ICNDS), and the Impact of Pediatric Epilepsy Scale (IPES) for disease impact on disability and Quality of Life (QoL), as well as the Pediatric Outcomes Data Collection Instrument (PODCI) for functional health status, and the Parental Stress Scale (PSS) for the family stress load.

Relationship between the corpus callosum and neurocognitive disabilities in children with NF-1: diffusion tensor imaging features.

Purpose: Mild neurocognitive disabilities are commonly observed in children with neurofibromatosis type 1 (NF-1). Enlargement of the corpus callosum (CC) is one of the findings in NF-1, but the pathogenesis has not yet been clarified. In this study, we investigated whether diffusion tensor imaging (DTI) features of CC differed between children with NF-1 and healthy control subjects, and we tried to evaluate the association between the microstructural integrity of CC and neurocognitive disabilities, based on apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values.

Rare vascular pathology sinus pericranii; becomes symptomatic with pseudotumor cerebri.

Sinus pericranii (SP) is an uncommon vascular pathology that is characterized by a nodular structure emerging from the scalp. It is generally asymptomatic. Typically, it is aclose to soft, compressive, fluctuant swelling, intracranial sinus.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Temple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe. Here we report damaging de novo mutations in KCNH1 (encoding a protein called ether à go-go, EAG1 or KV10.1), a voltage-gated potassium channel that is predominantly expressed in the central nervous system (CNS), in six individuals with TBS.

MRS features during encephalopathic crisis period in 11 years old case with GA-1.

Glutaric aciduria type-1 (GA-1) is a disorder of amino acid metabolism. The usual clinical-onset is an acute encephalopathic crisis in early childhood. There are only a few cases diagnosed in older age groups.

Prognosis and demographic characteristics of SSPE patients in Istanbul, Turkey.

Aim: SSPE is a rare progressive, invariably fatal long-term complication of measles infection. In this study, we assessed the demographic and prognostic characteristics of 64 consecutive SSPE patients diagnosed at a tertiary center.

Methods: The study had a retrospective design; data were obtained from patient records.