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.

A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.

We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.

[Non-epileptic disorders in infancy and adolescence].

Epilepsy affects 0.5% of the population. A 25% of the patients referred to epilepsy services have paroxysmal clinical events associated with motor activities, sensory or emotional alterations, or consciousness impairment, which are not epileptic seizures.

[Acute muscle weakness: differential diagnoses].

Acute muscle weakness, a common disorder in pediatrics, can occur from impairment of any part of the motor unit, including the upper motor neuron, lower motor neuron, peripheral nerve, neuromuscular junction or muscle. It usually manifests itself as an acute or hyperacute motor disorder of progressive or rapidly progressive course. Acute muscle weakness is a neuromuscular emergency, especially if it affects the respiratory or oropharyngeal musculature.

Childhood acute bacterial meningitis: risk factors for acute neurological complications and neurological sequelae.

Objective: To assess acute neurological complications and neurological sequelae of childhood acute bacterial meningitis in order to determine possible warning signs.

Methods: This retrospective study evaluated children with acute bacterial meningitis (between 1 month and 14 years of age) admitted between 2003 and 2006.

Results: Of the 44 patients studied, 17 (38.

[Study of 312 children with meningitis treated at a University Hospital in the South of Brazil].

The aim of this study is to evaluate the clinical and laboratorial aspects, as well as the etiological profile and the evolution characteristics, of the diverse types of severe meningitis treated at a Pediatric Clinic of a public university hospital. From a descriptive and retrospective study, 312 children at the Pediatric Clinic of the Hospital de Clínicas of the Federal University of Paraná were evaluated between January 2003 and January 2007. All of them had a probable diagnosis of meningitis based on clinical signs, and on the cytological and biochemical alterations in the cerebrospinal fluid routine examination.

Quality of life of children with cerebral palsy treated with botulinum toxin: are well-being measures appropriate?

Aim: To analyze quality of life (QOL) of children with cerebral palsy (CP) treated with botulinum toxin type A (BTXA).

Method: Two QOL evaluation tools, translated into Portuguese, were used: Pediatric Outcomes Data Collection Instrument (PODCI) and Child's Caregiver Questionnaire (CCQ). Questionnaires were answered by caregivers on two occasions.

Association of lamotrigine and valproate in refractory epilepsies of children and adolescents.

Objective: To evaluate the efficacy or eventual side-effects of the association of lamotrigine and sodium valproate in the control of refractory epilepsies.

Method: A retrospective analysis of 37 children with a mean age of 12 years taking exclusively lamotrigine and sodium valproate. Efficacy of seizure control was considered satisfactory if there was a reduction in seizures>50% or total control.

Proton MR spectroscopy of the foramen of Monro region in patients with tuberous sclerosis complex.

Purpose: To evaluate with 1H-magnetic resonance spectroscopy (MRS) the metabolites rations of the foramen of Monro's region in patients with tuberous sclerosis complex (TSC).

Method: Twelve patients with TSC and an age and gender-matched control group underwent MR imaging at a 1.5T scanner, and 1H-MRS at the foramen of Monro level with a multivoxel acquisition.

[Syncope in infants and adolescents].

Aim: To review the syncope in infants and adolescents as well as its etiology, clinical manifestations, physiopathology, diagnostic methods and treatment.

Development: The syncope is a clinical entity characterized by sudden and transient loss of consciousness and postural tone, with a quick and complete recovery. The syncope is frequent in children and adolescents.

Evaluation of the signs and symptoms of temporomandibular disorders in children with headaches.

Purpose: The purpose of this study was to evaluate the presence of signs and symptoms of temporomandibular disorders (TMD) in children with headaches in a neuropediatric ambulatory.

Method: Fifty patients between 4 and 18 years of age were examined: 31 had headaches (24 migraine, 4 tension type and 3 unspecific headache) and 19 formed the control group. The data collection was comprised of a structured questionnaire answered by the children's parents, and a subjective evaluation about the childrens emotional state.

Status Dystonicus: study of five cases.

Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease (WD). Three patients were admitted to an intensive care unit and treated with propofol and midazolam, and two were submitted to neurosurgical procedures (bilateral pallidotomy and bilateral pallidal deep brain stimulation).

Myelomeningocele: a Brazilian University Hospital experience.

We analyzed 31 children with myelomeningocele born between July 1990 and July 2000. Follow-up median was 24 months (6-68 months). Only 2 mothers had a known etiologic factor (diabetes mellitus).

[Behavior disorders in childhood epilepsy].

Objective: To introduce pediatricians to the psychiatric and behavioral disorders that most frequently affect children with epilepsy, qualifying them to diagnose, evaluate risk factors and guide the treatment of these children.

Sources Of Data: MEDLINE (1979 to 2003) and epilepsy clinic at the Neuropediatrics Center, Universidade Federal do Paraná, Brazil.

Summary Of The Findings: Children with epilepsy are at increased risk for behavioral and emotional problems when compared to children in the general population and to children with other chronic illnesses not involving the central nervous system.