Hemispheric Dominance and Neurodevelopmental Disorders: Global Effects for Intensive Motor Training on White Matter Plasticity.

Cerebral maturation is characterized by different age-dependent molecular and cellular processes and follows a different course for grey matter (GM) and white matter (WM). During brain development, a crucial point seems to be represented by the establishment of a hemispheric specialization with the left hemisphere dominant for language and motor control and the right hemisphere dominant for visuospatial processing and attention. Therefore, motor and cognitive development are strongly connected. Atypical motor development and lateralization can be associated with neurodevelopmental disorders, such as Language Disorder, Learning Disorders (Dysgraphia and Dyslexia), Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder. The aim of our research was to investigate the possible effects of intensive motor training on WM plasticity and writing skills in children with Developmental Dysgraphia through a tractography study of the main WM tracts. Considering the effect of training for the Mean Diffusivity (MD) over 18 WM tracts, in 6 collaborating dysgraphic patient MD decrease (-4.3%) and in 3 not. Intensive motor training affects both stimulated and not stimulated WM tracts and showed a double not-specificity: for not stimulated hemilate and for not directly stimulated WM tracts. Intensive motor training improves both some lateralized brain functions and intra- and inter-hemispheric connectivity in our patients with good compliance with motor treatment. Moreover, our findings have shown that WM plasticity improvement concerned cortical areas responsible for both motor and cognitive functions.

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.

Early infantile epileptic encephalopathies (EIEEs) are a group of neurological disorders characterized by early-onset refractory seizures, severe electroencephalographic abnormalities, and developmental delay or intellectual disability. Recently, genetic studies have indicated that a significant portion of previously cryptogenic EIEEs are single-gene disorders. SPTAN1 is among the genes whose mutations are associated with EIEE development (OMIM# 613477). Here, a case of the c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 mutation associated with a severe EIEE is reported. This case shows that mutations in the α20 repeat in the C-terminal of αII spectrin can be associated with EIEE. Duplication seems essential to cause EIEE. This causation is not demonstrated for amino acid deletions in the same spectrin residues. Reportedly, children with p.(Asp2303_Leu2305del) and p.(Gln2304_Gly2306del) deletions have childhood-onset epilepsy and no or marginal magnetic resonance imaging abnormalities, suggesting that not only the location but also the type of mutation plays a role in conditioning nervous system damage. Further studies are needed for a better understanding of the phenotype/genotype correlation in SPTAN1-related encephalopathies.

The Decrease in Human Endogenous Retrovirus-H Activity Runs in Parallel with Improvement in ADHD Symptoms in Patients Undergoing Methylphenidate Therapy.

Increasing scientific evidence demonstrated the deregulation of human endogenous retroviruses (HERVs) expression in complex diseases, such as cancer, autoimmune, psychiatric, and neurological disorders. The dynamic regulation of HERV activity and their responsiveness to a variety of environmental stimuli designate HERVs as genetic elements that could be modulated by drugs. Methylphenidate (MPH) is widely used in the treatment of attention deficit hyperactivity disorder (ADHD). The aim of this study was to evaluate the time course of human endogenous retrovirus H (HERV-H) expression in peripheral blood mononuclear cells (PBMCs) with respect to clinical response in ADHD patients undergoing MPH therapy. A fast reduction in HERV-H activity in ADHD patients undergoing MPH therapy was observed in parallel with an improvement in clinical symptoms. Moreover, when PBMCs from drug-naïve patients were cultured in vitro, HERV-H expression increased, while no changes in the expression levels were found in ADHD patients undergoing therapy. This suggests that MPH could affect the HERV-H activity and supports the hypothesis that high expression levels of HERV-H could be considered a distinctive trait of ADHD patients.

Physiolgic hypercortisolism at onset of celiac disease in a girl: A case report.

RATIONALE: Celiac disease (CD) is an autoimmune disorder induced by dietary gluten in genetically predisposed subjects. Activation of the hypothalamic-pituitary-axis (HPA) can occur in patients with CD; however, this condition has never been described in overweight/obese CD children. PATIENT CONCERNS: A 12-year-old girl with CD was admitted with mild acanthosis nigricans of the armpits, groin and neck. Recently, extra fat appeared around the neck, and moon face was observed. The abdomen was globular and meteoric, treatable and not aching. She weighed 64 kilos (75°-97° percentile) and was 146 centimeters tall (3°-25° percentile) with a body mass index of 30 kg/mq. Laboratory tests revealed hypertriglyceridemia and positive anti-transglutaminase IgA. Cortisoluria was determined. Serum ACTH was normal. DIAGNOSES: This paper reports a case of a girl with CD in which both obesity and activation of HPA activity were noted. INTERVENTIONS: During follow-up, anti-transglutaminase IgA increased to 201.5 UI/mL. The patient was positive for anti-endomysium antibodies, and the HLA DQ2 haplotype was identified, confirming a diagnosis of CD. OUTCOMES: Despite a gluten-free diet, obesity and hyperadrenalism persisted, and anti-transglutaminase antibodies remained elevated. In addition, high cortisoluria persisted. A high-dose suppression dexamethasone test (8 mg) produced negative results with a morning cortisol value of 1 ng/mL, suggesting the diagnosis of pseudo-Cushing's syndrome. LESSONS: This case highlights that the first manifestation of CD could be being overweight, and this finding seems to support the need to prescribe laboratory tests for CD not only to children with failure to thrive, as commonly recommended, but also to those with increased body weight.

Recurrent Renal Colic in a Patient with Munchausen Syndrome.

BACKGROUND: In most of the cases regarding children, factitious disorders (FDs) are intentionally produced by parents. Less attention is paid to FDs in which a child or adolescent intentionally induces or falsifies the disease to attain a patient's role. CASE PRESENTATION: A 13-year-old immigrated and adopted boy previously underwent an operation for renal joint syndrome and was affected by recurrent episodes of renal colic. The boy was admitted reporting acute left flank pain with scars on the mucous face of his prepuce and had a recent previous hospitalization for the same reason. Laboratory tests and radiological findings did not reveal any morphological or functional alterations. Self-induced FD was suspected, and a psychiatric consultation was performed. After psychiatric consultation and remission of the symptoms with a placebo, a diagnosis of Munchausen syndrome was suspected. The patient's uncle was not initially convinced of the diagnosis. Some videos clearly showed that the boy was handling his prepuce to excrete stones, explaining the scars. A therapeutic plan with psychiatrist support was later accepted with a positive outcome. No further signs and symptoms of renal colic were reported. CONCLUSIONS: It is recommended that paediatricians include FD in the differential diagnosis of a persistent and unexplained medical condition. If suspicion arises, confirmation and long-term therapy by a group of qualified specialists, including psychiatrists, should be planned.

Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy.

BACKGROUND: Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD. CASE PRESENTATION: A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here. A gluten-free diet had a significant therapeutic role in this case, wherein most of the clinical signs and symptoms of AD disappeared in a few days. In addition, the dosage of cortisol acetate, initially administered to treat the AD, was able to be rapidly reduced. CONCLUSION: This case highlights that CD can be associated with AD in children, and a gluten-free diet seems to positively influence the course of AD.

A Possible Pathogenic Linkage Among Headache, Migraine, and Nocturnal Enuresis in Children.

PURPOSE: This study aims to evaluate the prevalence of headaches and migraine in children with nocturnal enuresis (NE) and to improve knowledge on these conditions. In particular, for this purpose, a possible pathogenic relationship linking both conditions and the impact of headaches and migraine on NE persistence was evaluated. METHODS: Researchers enrolled 123 children with NE, aged between 5 and 15 years, referred to the Service of Pediatrics, Campus Bio-Medico University Hospital of Rome between January 2014 and January 2015. Parents of all children enrolled in the study were invited to complete a self-reported questionnaire. The study protocol was approved by the Human Research Ethics Committee of Campus-Bio-Medico University. The NE group data was compared with the data of a control group (107 children). RESULTS: Of the eligible patients, 7.8% suffer from headaches/migraine (mean age, 9.63 years; interquartile range [IQR], 3.5 years) and 47.1% have a family history of headaches (mean age, 8.46 years; IQR, 3.75 years). Of the 8 patients with headaches, all are male, 3 have tension-type headaches (2 of them have maternal family history) and 5 have migraine (3 of them have maternal family history). Of the 35.3% with a migraine family history (mean age, 8.36 years; IQR, 3.5 years), 22 are male, and 14 are female. Three of these patients have migraine. A total of 92.2% suffer from NE but not from headaches (mean age, 8.43 years; IQR, 3 years). Of these patients, 33 are female (35.1%), and 61 are male (64.9%). In the control group, 4.7% (5 out of 107) of the children suffer from headaches, and of these, 4 are affected by nonmigraine headaches and 1 by migraine. CONCLUSIONS: In conclusion, according to the hypothesis, NE and headaches/migraine could be linked by several similarities.