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The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known, at present there are few data on the spinal-cord abnormalities in these pathologies, in particular in adult subjects. In this study, we present a cross-sectional cohort study on the prevalence and characterization of spinal-cord involvement in adult patients with genetically defined mitochondrial diseases.

Background: Children with Attention Deficit Hyperactivity Disorder (ADHD) having a history of adverse childhood experiences (ACEs) could be very difficult to treat with standard psychotherapeutic approaches. Some children diagnosed with ADHD may have Post-Traumatic Stress Disorder (PTSD) or have had experienced a significant traumatic event. Trauma and PTSD could exacerbate ADHD core symptoms and be a risk factor of poor outcome response. Objective: to report for the first time the history of a patient with ADHD and ACE successfully treated with an EMDR approach. Conclusion: EMDR could be a promising treatment for ADHD children with a history of traumatic experiences in addition to pharmacological treatments.

The aim of this retrospective study was to review body mass index (BMI) in a large cohort of Italian pediatric type 2 spinal muscular atrophy (SMA) patients, aged between 0 and 20 years and to establish possible differences in relation to a number of variables such as ventilation, motor function, and survival motor neuron 2 gene copies. Cross-sectional data were collected from 102 patients for a total of 344 visits. Standard growth charts for height and weight were used as reference, with age adjusted BMI calculated using the Center for Disease and Prevention Children’s BMI Tool. In the 344 visits, weight ranged between 3.90 and 83 kg, and the BMI between 8.4 and 31.6 with a BMI/age z-scores z-scores > + 2SD in 9% of the measurements. The BMI/age z-scores were relatively stable z-scores after the age of 13. A difference on the BMI/age z-scores was found among the different age subgroups (z-scores and gender were significantly contributing to the changes while other variables were not.Conclusion: Our results confirm that careful surveillance of weight and BMI/age z-scores is needed in type 2 SMA. Further studies, including assessments of chewing and swallowing and of lean/fat body mass, will help to better understand the possible mechanisms underlying weight issues. What is Known:• Feeding difficulties have been reported in a few studies and were invariably found in patients with type 1 SMA.• Type 2 SMA patients often have low BMI with a relevant number of patients requiring tube feeding. What is New:• Reduction in BMI/age z-score overtime appeared to depend on baseline BMI/age z-score and gender.• Patients with a low BMI/age z-score were at higher risk of developing further reduction.

To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course. At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age. Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy.

Objectives (i) to assess the presence of sleep disorders in a population of very preterm children (ie, with a gestational age [GA] ≤ 31 weeks) of preschool age with no history of neurological disabilities using a questionnaire standardized for this age group and (ii) to identify possible differences in a control group of term-born children. Methods A total of 146 low-risk preterm children (mean gestational age 28 weeks; range: 25–30), were assessed at a preschool age (mean age 3.8 years; range 3–6 years) using the sleep disturbance scale for children (SDSC) to assess sleep problems. As controls, 146 typically developing children matched for age and gender were also evaluated using the SDSC. Results An abnormal total sleep score (>70) was found in 7% of preterm children, while 21% had an abnormal score on at least one SDSC factor. No significant differences were reported according to the age of assessment or gestational age. The preterm group reported higher significant median scores on SDSC total, sleep-disordered breathing, sleep hyperhidrosis and difficulty in initiating and maintaining sleep factors. Conclusions Low-risk very preterm children showed only a slightly higher incidence of sleep disorders than term-born peers at preschool age, with higher scores in specific sleep factors. These data could be useful to clinicians for screening those preterm children at risk for sleep disorders who need a more detailed assessment for a conclusive diagnosis and treatment.