Onasemnogene abeparvovec gene replacement therapy for the treatment of spinal muscular atrophy: a real-world observational study.

Spinal muscular atrophy (SMA) is a genetically inherited recessive neuromuscular disease that causes muscular atrophy and weakness. Onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) is a targeted therapy approved to treat patients with SMA in >40 countries worldwide. This study describes the clinical efficacy and tolerability of gene replacement therapy with onasemnogene abeparvovec over a 3-month period in 9 SMA type 1 patients aged 1.

Childhood Obesity and Maternal Personality Traits: A New Point of View on Obesity Behavioural Aspects.

The epidemic spread of childhood obesity in Western society has interested many researchers, who agree in defining it as a multifactorial disease in which not only eating habits and sedentary lifestyle play a role, but also genetic predisposition. The aim of this study was to analyze the personality profile of a group of mothers of children with obesity and to compare this profile to that of a group of mothers of children without obesity. A total of 258 mothers participated in the study (126 mothers of children with obesity and 132 mothers of children without obesity).

Association between anorexia nervosa and other specified eating or feeding disorders and paranoia in adolescents: what factors are involved?

Introduction: In eating disorders, the association with other psychiatric symptoms is of particular interest. The association between anorexia nervosa and psychotic symptoms is less studied than that with affective disorders (anxiety/depression). The aim of this study is to describe a psychotic symptom (paranoia) in adolescents with anorexia nervosa looking at several potential explicative associated factors: eating disorder symptoms, body image concerns, depression and social anxiety.

Neurodevelopmental Disorders: Effect of High-Fat Diet on Synaptic Plasticity and Mitochondrial Functions.

Neurodevelopmental disorders (NDDs) include diverse neuropathologies characterized by abnormal brain development leading to impaired cognition, communication and social skills. A common feature of NDDs is defective synaptic plasticity, but the underlying molecular mechanisms are only partially known. Several studies have indicated that people's lifestyles such as diet pattern and physical exercise have significant influence on synaptic plasticity of the brain.

Emotional-Behavioral Disorders in Healthy Siblings of Children with Neurodevelopmental Disorders.

Siblings of disabled children are more at risk of developing mental illnesses. More than 50 international studies show that about 8% of children and adolescents suffer from a mental disorder, which is almost always a source of difficulties both at the interpersonal level (in the family and with peers) and at school. Healthy siblings of children with disabilities are one of the groups most at risk for consequences in psychological health and well-being.

Electroencephalographic Abnormalities in Autism Spectrum Disorder: Characteristics and Therapeutic Implications.

A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities.

Neuropeptides' Hypothalamic Regulation of Sleep Control in Children Affected by Functional Non-Retentive Fecal Incontinence.

Functional non-retentive fecal incontinence (FNRFI) is a common problem in pediatric age. FNRFI is defined as unintended loss of stool in a 4-year-old or older child after organic causes have been excluded. FNRFI tends to affects up to 3% of children older than 4 years, with males being affected more frequently than females.

Parental Stress and Parental Ratings of Behavioral Problems of Enuretic Children.

Primary monosymptomatic nocturnal enuresis (PMNE) may have a stressful impact on the everyday life of children and parents, and it may represent a cumulative stress factor increasing feelings of "learned helplessness." The current study investigated parental stress in a group of parents ( = 330) of children affected by PMNE, compared to a group of parents ( = 330) of typical developing children (TDC). In addition, the study evaluated whether parents of PMNE children experience more emotional, social, and behavioral problems in their children, compared to parents of TDC.

Emotional Intelligence in Children with Severe Sleep-Related Breathing Disorders.

Background: Obstructive sleep apnea syndrome (OSAS) affects up to 4% of a pediatric population, with many comorbidities in the medium-long term. Functional alterations in the prefrontal cortex (PFC) may explain why OSAS impacts aspects such as executive functions, memory, motor control, attention, visual-spatial skills, learning, and mood regulation. Emotional intelligence (EI) is a complex neuropsychological function that could be impaired in many clinical conditions.

Sleep Macrostructure and NREM Sleep Instability Analysis in Pediatric Developmental Coordination Disorder.

Developmental Coordination Disorder (DCD) is considered to be abnormal motor skills learning, identified by clumsiness, slowness, and/or motor inaccuracy impairing the daily-life activities in all ages of life, in the absence of sensory, cognitive, or neurological deficits impairment. The present research focuses on studying DCD sleep structure and Cyclic Alternating Pattern (CAP) parameters with a full overnight polysomnography and to study the putative correlations between sleep architecture and CAP parameters with motor coordination skills. The study was a cross-sectional design involving 42 children (26M/16F; mean age 10.

Maternal Stress and Coping Strategies in Developmental Dyslexia: An Italian Multicenter Study.

Background: Studies about the impact of developmental dyslexia (DD) on parenting are scarce. Our investigation aimed to assess maternal stress levels and mothers' copying styles in a population of dyslexic children.

Methods: A total of 874 children (500 boys, 374 girls; mean age 8.

Update on the safety of second generation antipsychotics in youths: a call for collaboration among paediatricians and child psychiatrists.

During the past decade, a substantial increase in the use of second generation antipsychotics (SGAs) has occurred for a number of juvenile psychiatric disorders, often as off-label prescriptions. Although they were thought to be safer than older, first generation antipsychotics, mainly due to a lower risk of neurological adverse reactions, recent studies have raised significant concerns regarding their safety regarding metabolic, endocrinological and cardiovascular side effects. Aim of this paper is to update with a narrative review, the latest findings on safety of SGAs in youths.