Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.

Joubert syndrome (JS) is a recessively inherited ciliopathy, characterized by a specific cerebellar and brainstem malformation recognizable on brain imaging as the "molar tooth sign" (MTS). Clinical signs include hypotonia, developmental delay, breathing abnormalities, and ocular motor apraxia. Older patients develop ataxia, intellectual impairment, and variable organ involvement.

The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study.

Background: Management of spinal muscular atrophy (SMA) has progressed enormously and reached unprecedented levels with nusinersen gene therapy. We are finally able to counter the progression of this devastating genetic disease, contributing to the definition of new trajectories in its natural history and the identification of new SMA phenotypes post-gene therapy. The aim of this paper was to use the The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study (ICF-CY) as a comprehensive documentation tool to better understand and improve care provided to a child with SMA and to illustrate its use in a multidisciplinary perspective with a proof-of-concept study.

A systematic review of coping strategies in parents of children with attention deficit hyperactivity disorder (ADHD).

Background: Parents of children with attention deficit hyperactivity disorder (ADHD) use several coping strategies to deal with ADHD symptoms impacting family life.

Aim: The aim of this systematic review was to summarize the coping strategies used by parents of children with ADHD, identify which tools are most frequently used to measure coping strategies, and examine factors influencing parental coping.

Method: According to PRISMA guidelines, we searched for articles indexed in PubMed, EBSCOhost, Scopus, and Web of Science using a combination of expressions including "coping" AND "ADHD" OR "attention-deficit/hyperactivity disorder" AND "parent" OR "parenting" OR "caregiver".

Coping, stress and negative psychological outcomes in parents of children admitted to a pediatric neurorehabilitation care unit.

Background: Parents' attitudes and psychological adjustment during their child's hospitalization in a pediatric neurorehabilitation care unit are key aspects for the child's adherence to care and the impact of the disease.

Aim: The aim of this study was to examine the relationship between parenting stress, coping style, and negative psychological outcomes in families of children admitted for the first time to a pediatric neurorehabilitation care unit.

Design: This is an observational study.

Motor competency and social communication skills in preschool children with autism spectrum disorder.

Unlabelled: This study aimed to investigate the association between motor competency and social communication in children with Autism Spectrum Disorder (ASD) compared with children with Intellectual Disabilities (ID) and typically developing (TD) children. Motor competency, ASD symptoms, and nonverbal Intelligent Quotient (IQ) were investigated through the following tests: Movement Assessment Battery for Children, second edition (MABC-2), Social Communication Questionnaire (SCQ), Autism Classification System of Functioning: Social Communication (ACSF:SC) and Leiter International Performances Scale Revised (Leiter-R). The ASD + ID and ID groups had lower MABC-2-manual dexterity mean scores, MABC-2-aiming and catching mean scores, MABC-2-static and dynamic balance mean scores and MABC-2-TTS compared with the TD group (P < 0.

Social communication in children with autism spectrum disorder (asd): Correlation between DSM-5 and autism classification system of functioning-social communication (ACSF:SC).

The aim of this study was to classify children with Autism Spectrum Disorder (ASD) according to Autism Classification System of Functioning: Social Communication (ACSF:SC) criteria, in order to investigate the association between social communication ability, ASD severity, adaptive functioning, cognitive abilities and psychoeducational profile. The severity of social communication impairment was specified through Diagnostic and Statistical Manual of Mental Disorders-5th edition (DSM-5) and ACSF:SC tool. The ADOS-2, Vineland-II and PEP-3 were administered to all participants.

Psychopathology in children and adolescents with primary headaches: categorical and dimensional approaches.

Background: Recurrent headache is common in childhood, but there is not a great amount of data on the associations between headaches and psychopathology in children.

Objective: The aim of this study is to examine the relationships between primary headaches and psychopathology in children, using both the categorical and dimensional assessment.

Methods: The sample consisted of 70 patients with primary headache compared to a matched sample of 50 healthy children.

Familial liability, obstetric complications and childhood development abnormalities in early onset schizophrenia: a case control study.

Background: Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset schizophrenia (EOS) and very early-onset schizophrenia (VEOS).

Methods: We present a case-control study of a sample of 21 patients with EOS/VEOS and a control group of 21 patients with migraine, recruited from the Child Neuropsychiatry Unit, Department of Neurologic and Psychiatric Science, University of Bari, Italy. The aim was to assess the statistical association between VEOS/EOS and family history for psychiatric disorders, obstetric complications and childhood developmental abnormalities using 2 × 2 tables and a Chi Squared or Fisher test.

Electrophysiological study in 2 children with transient hypohidrosis induced by topiramate.

Objective: Hypohidrosis, often associated with hyperthermia, has been reported, mostly in children, as a rare and reversible adverse effect of topiramate, an anticonvulsant drug with a broad spectrum of antiepileptic activity. The aim of our study is to detect a possible skin innervation involvement as the mechanism underlying hypohidrosis in children treated with topiramate.

Methods: A neurophysiological study has been performed on 2 children who have developed hypohidrosis under topiramate treatment.