Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot study.

The branched-chain amino acid (BCAA) is a group of essential amino acids that are involved in maintaining the energy balance of a human being as well as the homoeostasis of GABAergic, glutamatergic, serotonergic and dopaminergic systems. Disruption of these systems has been associated with the pathophysiology of autism while low levels of these amino acids have been discovered in patients with autism. A pilot open-label, prospective, follow-up study of the use of BCAA in children with autistic behaviour was carried out.

Restricted Ketogenic Diet Therapy for Primary Lung Cancer With Metastasis to the Brain: A Case Report.

A high-fat and low-carbohydrate diet was administered as a complementary and alternative therapy to a 54-year-old man suffering from non-small-cell lung cancer (NSCLC) with brain metastasis. Three months after the cessation of chemotherapy and radiotherapy, a ketogenic diet (KD) was initiated. This approach was an attempt to stabilize the disease progression after chemotherapy and radiotherapy.

Efficacy of a Robot-Assisted Intervention in Improving Learning Performance of Elementary School Children with Specific Learning Disorders.

(1) Background: There has been significant recent interest in the potential role of social robots (SRs) in special education. Specific Learning Disorders (SpLDs) have a high prevalence in the student population, and early intervention with personalized special educational programs is crucial for optimal academic achievement. (2) Methods: We designed an intense special education intervention for children in the third and fourth years of elementary school with a diagnosis of a SpLD.

Ketogenic therapy for Parkinson's disease: A systematic review and synthesis without meta-analysis of animal and human trials.

Objective: The aim of the present systematic review was to assess the efficacy of ketogenic therapy in Parkinson's disease (PD), using all available data from randomized controlled trials (RCTs) on humans and animal studies with PD models.

Design: Systematic review of in vivo studies.

Methods: Studies related to the research question were identified through searches in PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), Scopus, clinicaltrials.

A Pediatric Patient With Autism Spectrum Disorder and Comorbid Compulsive Behaviors Treated With Robot-Assisted Relaxation: A Case Report.

The nature of autism spectrum disorders (ASDs) presents significant challenges, especially with regard to comorbidities and drug treatments. Parents and caregivers are often hesitant towards psychotropic medications, mainly due to the fear of side effects. Problems arise when comorbid symptomatology reaches extreme levels, leading to functional decline in the patients.

Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet.

Mutations in the gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a potentially reversible neurometabolic condition. Patients typically present with developmental delay, seizures, abnormal movements, and delayed myelination. We hereby expand the phenotypic and genotypic spectrum of the disease with the report of the first two Greek siblings that were found compound heterozygous for one known gene mutation (p.

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction. Hutchinson-Gilford progeria syndrome (HGPS) was the first premature aging syndrome linked to LMNA mutation and its molecular bases have been deeply investigated.

Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).

We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4-14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.

Evaluation of Oral Glucose Tolerance Test in Children With Epilepsy.

Glucose metabolism of children with drug-resistant epilepsy, controlled by antiepileptic drugs epilepsy, and first-time nonfebrile seizures was studied through the performance of an oral glucose tolerance test and through insulin, C-peptide, and glycosylated hemoglobin measurements. In the refractory epilepsy group, there were more abnormal oral glucose tolerance test results (62.07%) in comparison to the controlled epilepsy group (25%) and the group of first-time seizures (21.

Acquired toxoplasmosis accompanied by facial nerve palsy in an immunocompetent 5-year-old child.

Acquired toxoplasmosis, although relatively common in children, is usually asymptomatic but can also be clinically manifested by a benign and self-limited infectious mononucleosis-like syndrome. Neurological complications are very rare in immunocompetent children. The authors report a 5-year-old boy who presented with cervical lymphadenopathy because of acquired toxoplasmosis accompanied with unilateral facial nerve paralysis.

The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience.

Background: The Inborn Errors of Metabolism (IEM) are far from the rare systemic diseases that mainly affect the neural tissue. There are very few written reports on ocular findings in subjects with IEM, thus it was interesting to study the frequency of ocular findings in the studied population and explore their contribution to the early diagnosis of IEM.

Methods: Our study involved the evaluation of IEM suspected cases, which had been identified in a rural population in Crete, Greece.