Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.

INTRODUCTION: COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. CASE REPORTS: The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absence seizures and hypertrophic cardiomyopathy. Respiratory chain impairment was confirmed in muscle. DISCUSSION: Reviewed cases point toward clustering around two prevalent phenotypes: an early-onset presentation with severe fatal encephalopathy and a late milder presentation with global developmental delay/ID and cardiopathy, with the latter as, is the main feature. Our patients showed an intermediate phenotype with intrafamilial variability.

Using pharmacotherapy to address sleep disturbances in autism spectrum disorders.

INTRODUCTION: Sleep disorders are the second most common medical comorbidity in autism spectrum disorder (ASD), with effects on daytime behavior and functioning, mood and anxiety, and autism core features. In children with ASD, insomnia also has a negative impact on the whole family's quality of life. Therefore, treatment of sleep disturbances should be considered as a primary goal in the management of ASD patients, and it is important to clarify the scientific evidence to inappropriate treatments. AREAS COVERED: The authors review the current literature concerning the pharmacological treatment options for the management of sleep-related disorders in patients with ASD (aged 0-18 years) using the PubMed and Cochrane Library databases with the search terms: autism, autistic, autism spectrum disorder, ASD, drug, drug therapy, drug intervention, drug treatment, pharmacotherapy, pharmacological treatment, pharmacological therapy, pharmacological intervention, sleep, sleep disturbance, and sleep disorder. EXPERT OPINION: Currently, clinicians tend to select medications for the treatment of sleep disorders in ASD based on the first-hand experience of psychiatrists and pediatricians as well as expert opinion. Nevertheless, at the present time, the only compound for which there is sufficient evidence is melatonin, although antihistamines, trazodone, clonidine, ramelteon, gabapentin, or suvorexant can also be considered for selection.

The Role of Supplements and Over-the-Counter Products to Improve Sleep in Children: A Systematic Review.

The sleep-wake cycle is a complex multifactorial process involving several neurotransmitters, including acetylcholine, norepinephrine, serotonin, histamine, dopamine, orexin and GABA, that can be, in turn, regulated by different nutrients involved in their metabolic pathways. Although good sleep quality in children has been proven to be a key factor for optimal cognitive, physical and psychological development, a significant and ever-increasing percentage of the pediatric population suffers from sleep disorders. In children, behavioral interventions along with supplements are recommended as the first line treatment. This systematic review was conducted, according to the PRISMA guidelines, with the purpose of assessing the principal nutrients involved in the pathways of sleep-regulating neurotransmitters in children and adolescents. Our focus was the utilization of over the counter (OTC) products, specifically iron, hydroxytryptophan, theanine and antihistamines in the management of different pediatric sleep disorders with the intention of providing a practical guide for the clinician.

Semantic Priming in Mild Cognitive Impairment and Healthy Subjects: Effect of Different Time of Presentation of Word-Pairs.

INTRODUCTION: Semantic memory is impaired in mild cognitive impairment (MCI). Twomain hypotheses about this finding are debated and refer to the degradation of stored knowledgeversus the impairment of semantic access mechanisms. The aim of our study is to evaluate semanticimpairment in MCI versus healthy subjects (HS) by an experiment evaluating semantic priming. METHODS: We enrolled 27 MCI and 20 HS. MCI group were divided, according to follow up, intoconverters-MCI and non converters-MCI. The semantic task consisted of 108 pairs of words, 54 ofwhich were semantically associated. Stimuli were presented 250 or 900 ms later the appearance ofthe target in a randomized manner. Data were analyzed using factorial ANOVA. RESULTS: Both HSand MCI answered more quickly for word than for non-word at both stimulus onset asynchrony(SOA) intervals. At 250 ms, both MCI and HS experienced a shorter time of response for relatedwordthan for unrelated words (priming effect), while only the converters-MCI subgroup lost thepriming effect. Further, we observed a rather larger Cohen's d effect size in non converters-MCIthan in converters-MCI. CONCLUSION: Our data, and in particular the absence of a semantic primingeffect in converters-MCI, could reflect the impairment of semantic knowledge rather than theaccessibility of semantic stores in MCI individuals that progress to dementia.

Obsessive compulsive disorder comorbidity in DBA.

Diamond-Blackfan Anemia (DBA) is a congenital erythroid aplasia characterized as a normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocelullar bone marrow. DBA is known to be associated with mental retardation and learning disabilities. Although comorbidities with other psychiatric conditions have not been reported in the existing literature, we report in this paper a case of a DBA patient with previously undiagnosed comorbidity of obsessive compulsive disorder (OCD), successfully treated with sertaline 200 mg/day and valproic acid 600 mg/day. This case of comorbid presentation has clinical, therapeutic and pathophysiological implications. Given the difficulty of distinguishing among mental retardation, learning disabilities and OCD and the importance of precocious diagnosis in treating OCD especially since there are treatment methods interfering with anemia symptoms, physicians should adapt an adequate screening tool treating a child with DBA and comorbid mental disorder.