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.

Cerebral palsy and sleep: nonpharmacological treatment and impact on the life of caregivers - an integrative review.

Background:  Children with cerebral palsy have a higher prevalence of sleep disorders, with numerous factors associated with a negative impact on the quality of life of caregivers.

Objective:  To identify factors related to sleep disorders, nonpharmacological treatment, and the impact on the lives of caregivers.

Methods:  The present literature review was carried out in the Latin American and Caribbean Center on Health Sciences Information (BIREME), the Cochrane Library, Scopus, PubMed, the Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycInfo, WorldCat, Web of Science, Latin American Literature on Health Sciences (LILACS), and Excerpta Medica Database (EMBASE), with the descriptors , and .

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.

Movement Disorders in PURA Syndrome: A Video Case Series.

Background: PURA syndrome is a rare genetic disorder characterized by neonatal hypotonia, neurodevelopmental delay, facial dysmorphism, epileptic seizures, complex movement disorders, among other features. Although many pathogenic variants have been reported, there is currently no clear genotype-phenotype association identified.

Cases: Four patients diagnosed with PURA syndrome, despite carrying different pathogenic variants, presented a similar mixed hyperkinetic movement disorder.

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 autism spectrum disorder: hope or hype?

Rationale: Autism spectrum disorder (ASD) is defined as a group of neurodevelopmental disorders whose symptoms include impaired communication and social interaction, restricted and repetitive patterns of behavior, and varying levels of intellectual disability. ASD is observed in early childhood and is one of the most severe chronic childhood disorders in prevalence, morbidity, and impact on society. It is usually accompanied by attention deficit hyperactivity disorder, anxiety, depression, sleep disorders, and epilepsy.

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.

Adrenocorticotropic Hormone (ACTH)-Induced Dyskinesias in Infantile Spasms: A Video Case Report.

BACKGROUND Infantile spasms is an age-specific epilepsy syndrome that occurs during infancy and is characterized by tonic and/or flexor-extensor spasms, hypsarrhythmia on electroencephalography (EEG), and neurodevelopmental regression. Adrenocorticotropic hormone (ACTH) is considered one of the main therapies for the treatment of infantile spasms, but despite its great efficacy, it is still associated with potential adverse effects. CASE REPORT Four patients previously diagnosed with infantile spasms were treated with ACTH following the usual treatment regimen.

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).

No Acute Effects of Cannabidiol on the Sleep-Wake Cycle of Healthy Subjects: A Randomized, Double-Blind, Placebo-Controlled, Crossover Study.

Cannabidiol (CBD) is a component of that has a broad spectrum of potential therapeutic effects in neuropsychiatric and other disorders. However, few studies have investigated the possible interference of CBD on the sleep-wake cycle. The aim of the present study was to evaluate the effect of a clinically anxiolytic dose of CBD on the sleep-wake cycle of healthy subjects in a crossover, double-blind design.

Sleep disorders in spinocerebellar ataxia type 10.

As sleep disturbances have been reported in spinocerebellar ataxias (SCAs), including types SCA1, SCA2, SCA3, SCA6 and SCA13, identification and management of these disturbances can help minimise their impact on SCA patients' overall body functions and quality of life. To our knowledge, there are no studies that investigate sleep disturbances in SCA10. Therefore, the aim of this study was to assess sleep disturbances in patients with SCA10.

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).

Is there a relationship between narcolepsy, multiple sclerosis and HLA-DQB1*06:02?

We studied multiple sclerosis (MS) patients with the HLA-DQB1*06:02 allele and compared them with MS patients who did not carry the HLA-DQB1*06:02 allele. We analyzed clinical and neurophysiological criteria for narcolepsy in six MS patients with HLA-DQB1*06:02, compared with 12 MS patients who were HLA-DQB1*06:02 non-carriers. Only two patients with HLA-DQB1*06:02 allele scored higher than 10 on the Epworth Sleepiness Scale.

Δ9-THC Intoxication by Cannabidiol-Enriched Cannabis Extract in Two Children with Refractory Epilepsy: Full Remission after Switching to Purified Cannabidiol.

Animal studies and preliminary clinical trials have shown that cannabidiol (CBD)-enriched extracts may have beneficial effects for children with treatment-resistant epilepsy. However, these compounds are not yet registered as medicines by regulatory agencies. We describe the cases of two children with treatment-resistant epilepsy (Case A with left frontal dysplasia and Case B with Dravet Syndrome) with initial symptom improvement after the introduction of CBD extracts followed by seizure worsening after a short time.

Reactivation of herpes simplex virus-1 following epilepsy surgery.

Purpose: The present study reports a case of encephalitis due to herpes simplex virus-1 (HSV-1), following surgical manipulation of the site of a primary infection.

Methods: Herpes simplex virus-1 infection was confirmed by CSF PCR and DNA sequencing.

Results: The patient was an 11-year-old girl who required temporal lobe surgery for epilepsy.

Aspects of Oral Language, Speech, and Written Language in Subjects with Temporal Lobe Epilepsy of Difficult Control.

Introduction About 50 million people have epilepsy and 30% of them have epilepsy that does not respond to properly conducted drug treatment. Objective Verify the incidence of language disorders in oral language, speech, and written language of subjects with difficult to control temporal lobe epilepsy (TLE) and compare the occurrence of these disorders in subjects before and after surgery. Methods Cross-sectional study with quantitative analysis, exploratory type.

Niemann-Pick disease type C: a case series of Brazilian patients.

Unlabelled: The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C).

Method: Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented.

Result: The sample consisted of 5 patients aged 8 to 26 years.

Right and left mesial temporal lobe seizures in one patient: bona fide semiological, interictal, ictal, and MRI evidence.

We present the case of a 36-year-old patient with bilateral independent manual automatisms associated with seizures coming independently from the left and right temporal lobes, as documented by surface EEG ictal recordings. An MRI showed evidence of bilateral mesial temporal sclerosis, more prominent on the right side. We speculate whether clinical semiology (along with the ictal EEG and imaging findings) discourages the pursuit of invasive monitoring, leading to more aggressive medical management in this particular case.

Uncontrolled headache induced by oxcarbazepine.

Headache induced by acute exposure to a specific drug constitutes an idiosyncratic side effect. Metabolic imbalance appears as the leading aetiology, among several other hypotheses. Either primary headaches show a higher susceptibility to this idiosyncratic reaction or a drug-induced primary headache evolves in intensity and duration, becoming uncontrolled until the complete discontinuation of the drug in consideration.

Analysis of frontal sharp transients in 32 neonatal polysomnography in healthy fullterm newborns.

Objective: To identify and quantify frontal sharp transients found in neonatal polysomnography of healthy full term newborns in each stage of the sleep-wake cycle within the first 48 hours of life.

Method: The EEG from healthy term 32 newborns, legal age of two days and with adequate monitoring during pregnancy. Frontal sharp transients (FST) were quantified, according to synchronous or asynchronous, in each stage of the sleep-wake cycle.