A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).

Background: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria.

Quality of life in Down syndrome in Brazil: a cross-sectional study.

Background:  Down syndrome is the most commonly genetic cause of developmental delay and intellectual disability, affecting 1:700 live births. It is associated with heart disease and recurrent infections, among other complications that greatly impair the patient's quality of life.

Objective:  To evaluate the major factors associated with quality of life in a cohort of patients with Down syndrome.

A Retrospective Cohort Study of Combined Therapy in West Syndrome associated with Trisomy 21.

West syndrome (WS) is a frequent epileptic encephalopathy associated with Down syndrome (DS). This study evaluated an outpatient protocol for WS in patients with DS who received vigabatrin (VGB) or VGB plus adrenocorticotrophic hormone. We analyzed infants treated in two neuropediatric centers from 2001-2021.

Cannabidiol for the treatment of refractory epilepsy in children: a critical review of the literature.

Objective: The aim of this current report was to present a critical review of the use of cannabidiol (CBD) in the treatment of refractory epilepsies in the pediatric population.

Data Source: Literature review was carried out in the Medline (PubMed), Cochrane, and Scientific Electronic Library Online (SciELO) databases with the descriptors "Cannabidiol" and "Epilepsy." The search was not limited by the date of publication, language, or study design.

Central Auditory Processing and Cognitive Functions in Children.

 Nowadays, there is no consensus on whether central auditory processing disorder is a primary or a secondary deficit to other cognitive deficits. A better understanding of the association between cognitive functions and central auditory skills may help elucidate this dilemma.  To investigate possible associations between auditory abilities and cognitive functions in schoolchildren.

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

Objective: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant.

Methods: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020).

The relationship between gross motor function impairment in cerebral palsy and sleeping issues of children and caregivers.

Aim: To investigate, among children and adolescents with cerebral palsy (CP), the relationship between impairment of the gross motor function and: (i) child sleep disorders; (ii) the need for nocturnal support; and (iii) the quality of sleep of their caregivers.

Methods: For children, we considered their scores on the gross motor function measure (GMFM-88) and on the sleep disturbance scale for children (SDSC), besides analyzing qualitative features about their sleep. For caregivers, we considered their scores in the Pittsburgh sleep quality index (PSQI).

Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2).

Spinocerebellar ataxia type 2 (SCA2) is characterized by a progressive cerebellar syndrome, and additionally saccadic slowing, cognitive dysfunction, and sleep disorders. The aim of this study was to assess the frequency of abnormal findings in sleep recordings of patients with SCA2. Seventeen patients with genetically confirmed SCA2 from the Movement Disorders Outpatient group of the Hospital de Clínicas da UFPR were evaluated with a structured medical interview and the Scale for the Assessment and Rating of Ataxia (SARA).

THE EFFECT OF ADAPTED SPORTS IN QUALITY OF LIFE AND BIOPSYCHOSOCIAL PROFILE OF CHILDREN AND ADOLESCENTS WITH CEREBRAL PALSY.

Objective: The participation in sports and recreational activities promotes inclusion and the quality of life (QOL) for people with some type of disability. This study aims to evaluate and describe the effect of adapted sports (AS) on the QOL and biopsychosocial profile of children/adolescents with cerebral palsy (CP).

Methods: Forty-seven children/adolescents with CP were evaluated and referred to AS (soccer and swimming).