Neuropsychological profile in tuberous sclerosis complex: a study of clinical and cognitive variables in a cohort from Brazil.

Background:  Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity.

Objective:  To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development.

Methods:  A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed.

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.

Occupational Therapy Using Ayres Sensory Integration®: A Randomized Controlled Trial in Brazil.

Importance: Research conducted in the United States has found that occupational therapy using Ayres Sensory Integration® is an effective evidence-based intervention for children with autism spectrum disorder (ASD). Replication of this research in other cultures is needed.

Objective: To evaluate the outcomes of occupational therapy using Ayres Sensory Integration in a sample of Brazilian children with ASD.

Neurological, cognitive and learning evaluation of students who were born preterm.

Objective: To evaluate the cognitive and academic profile of preterm newborns at school age and to determine the factors related to prematurity and sociodemographic profile that influence these results.

Methods: Patients aged 6-14 years old that were assisted in the preterm follow-up clinic were recruited. The cognitive, academic, and neurological capacities were accessed through a detailed evaluation with a child neurologist, a neuropsychologist and a psychopedagogue.

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 effectiveness of early parental coaching in the autism spectrum disorder.

Objective: Analysis of the effectiveness of early Parental Coaching in the Autism Spectrum Disorder.

Method: Randomized, controlled and blinded clinical trial to analyze parent-child interaction videos.

Results: The sample consisted of 18 children being followed up at the Autism Outpatient Clinic of a Neuropediatric Center in southern Brazil diagnosed with Autism Spectrum Disorder, between 29 and 42 months of age, randomly allocated to two groups: the Study Group (SG; n=9), which received Parental Coaching performed by a professional certified by the Early Start Denver Model; and the Control Group (CG; n=9), which was in a routine follow-up, without treatment and training of parents by a trained professional.

The First Unprovoked Seizure in Typically Developing Children: A Real-Life Setting in Southern Brazil.

Aim: To describe the first unprovoked seizure in typically developing children, its clinical characteristics, recurrence rate, and possible risk factors in a real-life setting in Southern Brazil.

Method: In this retrospective cohort study, medical records of typically developing children aged 28 days to 14 years who had a first unprovoked seizure in a single tertiary care center were reviewed, in a 10-year period (2006-2016).

Results: Seventy-four children were included, 41 males and 33 females.

Delinquency and association with behavioral disorders and substance abuse.

Objective: to determine the incidence and associations of attention deficit-hyperactivity disorder (ADHD), conduct disorder (CD), and substance abuse disorder (SAD) in adolescents in conflict with the law in a Brazilian cohort.

Methods: the Brazilian version of the Schedule for Affective Disorders and Schizophrenia for School Aged-Children (K-SADS-PL) was administered to 69 adolescent boys who were incarcerated for 45 days in the city of Curitiba, Brazil.

Results: mean age was 15.

Evaluation of sensorimotor polyneuropathy in children and adolescents with type I diabetes: associations with microalbuminuria and retinopathy.

To investigate diabetic polyneuropathy, we measured peroneal motor conduction velocity, sural sensory nerve conduction velocity and vibratory sense threshold (biothesiometry) in 28 children and adolescents with insulin-dependent diabetes (type 1), and in 28 age- and sex-matched, normal controls. Age varied from 8 to 19 yr (mean +/- SD = 13.04 +/- 2.