Increased Delta and Theta Power Density in Sickle Cell Disease Individuals with Chronic Pain Secondary to Hip Osteonecrosis: A Resting-State Eeg Study.

PURPOSE: Identify the presence of a dysfunctional electroencephalographic (EEG) pattern in individuals with sickle cell disease (SCD) and hip osteonecrosis, and assess its potential associations with depression, anxiety, pain severity, and serum levels of brain-derived neurotrophic factor (BDNF). METHODS: In this cross-sectional investigation, 24 SCD patients with hip osteonecrosis and chronic pain were matched by age and sex with 19 healthy controls. Resting-state EEG data were recorded using 32 electrodes for both groups. Power spectral density (PSD) and peak alpha frequency (PAF) were computed for each electrode across Delta, Theta, Alpha, and Beta frequency bands. Current Source Density (CSD) measures were performed utilizing the built-in Statistical nonparametric Mapping Method of the LORETA-KEY software. RESULTS: Our findings demonstrated that SCD individuals exhibited higher PSD in delta and theta frequency bands when compared to healthy controls. Moreover, SCD individuals displayed increased CSD in delta and theta frequencies, coupled with decreased CSD in the alpha frequency within brain regions linked to pain processing, motor function, emotion, and attention. In comparison to the control group, depression symptoms, and pain intensity during hip abduction were positively correlated with PSD and CSD in the delta frequency within the parietal region. Depression symptoms also exhibited a positive association with PSD and CSD in the theta frequency within the same region, while serum BDNF levels showed a negative correlation with CSD in the alpha frequency within the left insula. CONCLUSION: This study indicates that individuals with SCD experiencing hip osteonecrosis and chronic pain manifest a dysfunctional EEG pattern characterized by the persistence of low-frequency PSD during a resting state. This dysfunctional EEG pattern may be linked to clinical and biochemical outcomes, including depression symptoms, pain severity during movement, and serum BDNF levels.

Psychopathological symptoms in parents and siblings of people on the autism spectrum: A systematic review and meta-analysis.

Parents and siblings of children on the autism spectrum experience significant distress, and for this reason, it is essential to understand the most prevalent psychopathological symptoms among this population. This work aims to establish the prevalence of psychopathological symptoms in parents and siblings of individuals on the autism spectrum, following the Preferred Reporting Items for Systematic Review and Meta-Analyses Protocols (PRISMA-P) criteria. Searches were carried out using the PubMed/Medline, Embase, PsycINFO, SciELO, and Biblioteca Virtual em Saúde (BVS) databases. Twenty-three articles were included in this review. Depressive symptoms were the most frequently reported conditions, with a higher prevalence in mothers of children on the autism spectrum. In the meta-analysis, mothers of children on the autism spectrum scored higher by 0.42 standard deviations on the symptom scales (SMD 0.42; CI 0.25-0.59), with low statistical heterogeneity (I2 0%, p = 0.5) when compared with mothers of children with atypical development. The psychopathological symptoms of relatives should be investigated as part of the follow-up procedures for the child on the autism spectrum to facilitate their treatment.

Hikikomori Syndrome and Digital Technologies: A Systematic Review.

ABSTRACT: Hikikomori syndrome (HS) is a voluntary prolonged social isolation associated with personal and community impact. Previous evidence pointed out a possible relationship between this syndrome with addiction to digital technologies. Here we aim to understand the relationship between HS and digital technology use, overuse, and addictive behaviors, as well as potential therapeutic approaches.We conducted a systematic review of observational and intervention studies available in PubMed/MEDLINE, LILACS, IBECS, Embase, PsycINFO, and SciELO databases, following the Preferred Reporting Items for Systematic Review and Meta-Analyses Protocols (PRISMA 2020) criteria. The risk of bias was assessed with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) and Consensus-based Clinical Case Reporting Guideline Development (CARE). Eligibility criteria were pre-, at-risk populations, or those with HS diagnosis, and any kind of technological overuse. Seventeen studies were included in the review, of which eight were cross-sectional, eight were case reports, and one was quasi-experimental. Hikikomori syndrome was associated with addition to digital technologies; no cultural differences were found. Environmental factors, such as a history of bullying, low self-esteem, and grief were identified as precursors of addictive behaviors. The included articles addressed addiction to digital technologies, electronic games, and social networks, among others, in HS. HS is cross-culturally associated with such addiction. The management of these patients remains challenging, and no target evidence-based treatments have been developed. The studies included in this review had several limitations, and more studies with a higher level of evidence are needed to support the results.

Alterations in deglutition in children with congenital Zika virus syndrome.

PURPOSE: To characterize swallowing in children with congenital Zika virus syndrome in comparison to typical children. METHODS: This cross-sectional study enrolled 45 children diagnosed with congenital Zika virus syndrome and 45 others with typical development. Swallowing was evaluated through clinical feeding evaluations Protocolo de Avaliação Clínica da Disfagia Pediátrica and using acoustic swallowing parameters (Doppler sonar). RESULTS: The mean age of children with congenital Zika virus syndrome was 26.69 ± 4.46 months and the mean head circumference was 29.20 ± 1.98 cm. Moderate/severe oropharyngeal dysphagia was found in 32(71.1%) of the children with congenital Zika virus syndrome. Significant differences were found between the groups on clinical evaluation: Children with congenital Zika virus syndrome presented insufficient lip closure 42(93.3%) and altered tonus of the tongue 35(77.8%) and cheeks 34(75.6%). In the children in the comparison group, only 6(13.3%) presented insufficient lip closure and 1(2.2%) had inadequate tongue posture. Changes during swallowing with liquid and spoonable food were not observed in the comparison group. When liquid/food was offered, affected children presented difficulties in sipping movements 14(77.8%) and lip/spoon contact 35(75%). The presence of residual food in the oral cavity after swallowing 38(86.4%) and clinical signs indicative of laryngotracheal penetration/aspiration, such as coughing, gagging and/or labored breathing, were also notable. No differences were found between the groups with regard to the acoustic parameters evaluated instrumentally. CONCLUSION: Children with congenital Zika virus syndrome present alterations in the oral phase of swallowing, as well as clinical signs indicative of pharyngeal phase impairment.

Altered Dynamic Brain Connectivity in Individuals With Sickle Cell Disease and Chronic Pain Secondary to Hip Osteonecrosis.

Individuals with sickle cell disease (SCD) exhibit changes in static brain connectivity in rest. However, little known as chronic pain associated with hip osteonecrosis affects dynamic brain connectivity during rest and the motor imagery task. The aim of this study was to investigate the characteristics of the dynamic functional brain connectivity of individuals with SCD and chronic pain secondary to hip osteonecrosis. This is a cross-sectional study comparing the dynamic brain connectivity of healthy individuals (n = 18) with the dynamic brain connectivity of individuals with SCD and chronic pain (n = 22). Individuals with SCD and chronic pain were stratified into high- or low-intensity pain groups based on pain intensity at the time of assessment. Dynamic brain connectivity was assessed through electroencephalography in 3 stages, resting state with eyes closed, and during hip (painful for the SCD individuals) and hand (control, nonpainful) motor imagery. Average weight of the edges and full synchronization time (FST)-time required for 95% of the possible edges to appear over time during a given task-were evaluated. Regarding the average weight of the edges, individuals with SCD and high-intensity pain presented higher edge weight during hip motor imagery. The average weight of the edges correlated positively with pain intensity and depression symptoms. Individuals with SCD and chronic pain complete the cerebral network at rest more quickly (lower FST). Individuals with SCD and chronic pain/hip osteonecrosis have impaired dynamic brain network with shorter FST in rest network and more pronounced diffuse connectivity in individuals with high-intensity pain. The dynamic brain network evaluated by time-varying graphs and motif synchronization was able to identify differences between groups.

Efficacy and safety of transcranial direct current stimulation over the left dorsolateral prefrontal cortex in children and adolescents with attention-deficit/hyperactivity disorder: a randomized, triple-blinded, sham-controlled, crossover trial.

Introduction: Although pharmacological treatment for Attention-Deficit/Hyperactivity Disorder (ADHD) has demonstrated efficacy, several individuals persist in experiencing social and academic impairment. Additionally, the occurrence of significant side effects may render the use of psychotropic medications untenable. However, Transcranial Direct Current Stimulation (tDCS), a non-invasive brain stimulation technique, shows promising results in treating ADHD. Objectives: To investigate the efficacy and safety of tDCS on the performance of children and adolescents with ADHD in neuropsychological tests involving visual attention, visual and verbal working memory, and inhibitory control. Methodology: This study was a triple-blind, randomized, sham-controlled, crossover clinical trial. The intervention consisted of a daily session of tDCS (2 mA) or sham targeting the left dorsolateral prefrontal cortex (L-DLPFC), for 30 min, on five consecutive days. The primary outcome was change in the Visual Attention Test, Fourth Edition (TAVIS-4) before and after each intervention. Subjects were also evaluated pre and post-tDCS using the Digit Span subtest of the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V), the Developmental Neuropsychological Assessment, Second Edition (NEPSY-II) Inhibiting Response (IR) subtest, and the Corsi Block-Tapping Task. Results: Fifteen individuals were included, and no statistically significant difference was observed when comparing the results of the TAVIS-4, the IR of NEPSY-II, and the intragroup Digit Span subtest of WISC-V undertaken before and after the procedure. Adverse events were mainly self-limiting and transient. The participants did not perceive any benefit from tDCS when measured on the Patient Global Impression of Improvement (PGI-I) Scale. Conclusion: This study did not meet its primary endpoint and found no performance enhancement in any investigated neuropsychological outcomes relating to the intervention group.

Alterations in deglutition in children with congenital Zika virus syndrome / Alterações na deglutição em crianças com síndrome congênita do vírus Zika

ABSTRACT Purpose To characterize swallowing in children with congenital Zika virus syndrome in comparison to typical children. Methods This cross-sectional study enrolled 45 children diagnosed with congenital Zika virus syndrome and 45 others with typical development. Swallowing was evaluated through clinical feeding evaluations Protocolo de Avaliação Clínica da Disfagia Pediátrica and using acoustic swallowing parameters (Doppler sonar). Results The mean age of children with congenital Zika virus syndrome was 26.69 ± 4.46 months and the mean head circumference was 29.20 ± 1.98 cm. Moderate/severe oropharyngeal dysphagia was found in 32(71.1%) of the children with congenital Zika virus syndrome. Significant differences were found between the groups on clinical evaluation: Children with congenital Zika virus syndrome presented insufficient lip closure 42(93.3%) and altered tonus of the tongue 35(77.8%) and cheeks 34(75.6%). In the children in the comparison group, only 6(13.3%) presented insufficient lip closure and 1(2.2%) had inadequate tongue posture. Changes during swallowing with liquid and spoonable food were not observed in the comparison group. When liquid/food was offered, affected children presented difficulties in sipping movements 14(77.8%) and lip/spoon contact 35(75%). The presence of residual food in the oral cavity after swallowing 38(86.4%) and clinical signs indicative of laryngotracheal penetration/aspiration, such as coughing, gagging and/or labored breathing, were also notable. No differences were found between the groups with regard to the acoustic parameters evaluated instrumentally. Conclusion Children with congenital Zika virus syndrome present alterations in the oral phase of swallowing, as well as clinical signs indicative of pharyngeal phase impairment.

RESUMO Objetivo Caracterizar a deglutição das crianças com síndrome congênita do Zika vírus e comparar com crianças típicas. Método Estudo de delineamento transversal, com 45 crianças diagnosticadas com síndrome congênita do Zika vírus e 45 típicas. A deglutição foi avaliada por meio de avaliações clínicas da alimentação através do Protocolo de Avaliação Clínica da Disfagia Pediátrica e dos parâmetros acústicos da deglutição (sonar Doppler). Resultados A idade média das crianças com síndrome congênita do vírus Zika foi de 26,69 ± 4,46 meses e o perímetro cefálico médio foi de 29,20 ± 1,98 cm. Disfagia orofaríngea de moderada a grave foi observada em 32(71,1%) das crianças com síndrome congênita do Zika vírus, ao contrário do grupo comparação que não revelou alterações na deglutição. Nas crianças com síndrome congênita do Zika vírus foram verificados lábios entreabertos 42(93,3%) e tônus alterado em língua 35(77,8%) e bochechas 34(75,6%). Nas crianças do grupo comparação apenas 6(13,3%) apresentaram fechamento labial insuficiente e 1(2,2%) postura de língua inadequada. Alterações durante a deglutição com líquido e alimento pastoso não foram observadas no grupo comparação. Durante a oferta do alimento ocorreram dificuldades no movimento de sorver 14(77,8%), na captação da colher 35(75%), resíduo em cavidade oral 38(86,4%) e sinais clínicos indicativos de penetração/aspiração laringotraqueal como tosse, engasgo e respiração com esforço. Não foram encontradas diferenças nos parâmetros acústicos da avaliação instrumental. Conclusão as crianças com síndrome congênita do Zika vírus têm alterações nas fases oral e faríngea da deglutição, com sinais clínicos indicativos de penetração/aspiração laringotraqueal quando comparadas a crianças típicas.

A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report.

Schuurs-Hoeijmakers syndrome, an autosomal dominant disorder associated with mutations in the PACS1 gene, was initially identified in two unrelated children of European descent from a cohort of individuals with intellectual disabilities. This gene alteration significantly reduced cranial cartilaginous structures, inducing craniofacial alterations predominantly in a dominant-negative fashion. In this paper, we report a novel variant of PACS1 associated with Schuurs-Hoeijmakers syndrome: a boy aged two years and nine months of indigenous descent presenting with motor stereotypies, atypical sensory searches, language delay, and low socio-interactional reciprocity. Whole exome sequencing confirmed the presence of a heterozygous missense mutation c.943C>T p. (Arg315Trp) in the PACS1 gene. The phenotypic profile identified was similar to the other cases of Schuurs-Hoeijmakers syndrome described in the literature. This report highlights the importance of considering the possibility of PACS1 gene alterations and a diagnosis of Schuurs-Hoeijmakers syndrome in patients presenting craniofacial alterations associated with autistic features, psychomotor and language development delay.

Sickle cell disease chronic joint pain: Clinical assessment based on maladaptive central nervous system plasticity.

Chronic joint pain (CJP) is among the significant musculoskeletal comorbidities in sickle cell disease (SCD) individuals. However, many healthcare professionals have difficulties in understanding and evaluating it. In addition, most musculoskeletal evaluation procedures do not consider central nervous system (CNS) plasticity associated with CJP, which is frequently maladaptive. This review study highlights the potential mechanisms of CNS maladaptive plasticity related to CJP in SCD and proposes reliable instruments and methods for musculoskeletal assessment adapted to those patients. A review was carried out in the PubMed and SciELO databases, searching for information that could help in the understanding of the mechanisms of CNS maladaptive plasticity related to pain in SCD and that presented assessment instruments/methods that could be used in the clinical setting by healthcare professionals who manage chronic pain in SCD individuals. Some maladaptive CNS plasticity mechanisms seem important in CJP, including the impairment of pain endogenous control systems, central sensitization, motor cortex reorganization, motor control modification, and arthrogenic muscle inhibition. Understanding the link between maladaptive CNS plasticity and CJP mechanisms and its assessment through accurate instruments and methods may help healthcare professionals to increase the quality of treatment offered to SCD patients.

Detection and sequencing of Zika virus in normocephalic newborns with congenital Zika infection.

Fourteen asymptomatic normocephalic newborns with confirmed congenital Zika infection were investigated. All newborns presented Zika virus (ZIKV) positivity on reverse transcriptase polymerase chain reaction. Following ZIKV-specific NS5 gene fragment sequencing in one child, phylogenetic analysis revealed that this isolate belonged to the Asian genotype, and clustered closely with other sequences previously isolated in north-east and northern regions of Brazil.

Botulinum Toxin Type A in the Spasticity of Cerebral Palsy Related to Congenital Zika Syndrome: An Observational Study.

PURPOSE: Investigate the effect of botulinum toxin type-A (BoNT-A) on spasticity and motor performance in children with Cerebral Palsy (CP) related to Congenital Zika Syndrome (CZS). METHODS: Prospective longitudinal observational study of 34 children with CP referred for BoNT-A treatment. Outcomes were evaluated with a muscle tone assessment scale (Modified Ashworth Scale - MAS) and the Patients' Global Impression of Improvement (PGI-I) scale. RESULTS: Mean age was 32.06 ± 3.07 months and 85% were classified as Gross Motor Function Classification System (GMFCS) V. Primitive reflexes were present in 56% of the sample. The majority of the parents (97.9%) reported improvement in range of motion or reduction in spasticity after treatment with botulinum toxin. No side effects were recorded. When compared to the baseline, median reduction in the MAS was 0.5 (IQR = 0). CONCLUSIONS: The findings of this study suggest that BoNT-A may effectively promote functional improvements and reduce muscle tone, improving the child's and family's quality of life.

Neuroplasticity and non-invasive brain stimulation in the developing brain.

The brain is a dynamic organ whose growth and organization varies according to each subject's life experiences. Through adaptations in gene expression and the release of neurotrophins and neurotransmitters, these experiences induce a process of cellular realignment and neural network reorganization, which consolidate what is called neuroplasticity. However, despite the brain's resilience and dynamism, neuroplasticity is maximized during the first years of life, when the developing brain is more sensitive to structural reorganization and the repair of damaged neurons. This review presents an overview of non-invasive brain stimulation (NIBS) techniques that have increasingly been a focus for experimental research and the development of therapeutic methods involving neuroplasticity, especially Transcranial Magnetic Stimulation (TMS) and Transcranial Direct Current Stimulation (tDCS). Due to its safety risk profile and extensive tolerability, several trials have demonstrated the benefits of NIBS as a feasible experimental alternative for the treatment of brain and mind disorders in children and adolescents. However, little is known about the late impact of neuroplasticity-inducing tools on the developing brain, and there are concerns about aberrant plasticity. There are also ethical considerations when performing interventions in the pediatric population. This article will therefore review these aspects and also obstacles related to the premature application of NIBS, given the limited evidence available concerning the extent to which these methods interfere with the developing brain.

The effects of transcranial direct current stimulation on attention and inhibitory control of children and adolescents with attention-deficit/hyperactivity disorder (ADHD): Study protocol for a randomized, sham-controlled, triple-blind, cross-over trial.

ABSTRACT: Attention-deficit/hyperactivity disorder (ADHD) is characterized by a persistent pattern of inattention and hyperactivity/impulsivity. Despite the proven efficacy of pharmacological treatment, many individuals continue to suffer socially and academically and some experience significant side effects that negate the use psychotropic drugs. Transcranial direct current stimulation (tDCS) is a cortical neuromodulation feature that has shown positive results in the treatment of various neuropsychiatric conditions. OBJECTIVES: To investigate the effect of tDCS on the performance of children and adolescents with ADHD in the neuropsychological tests of visual attention, verbal, and inhibitory control. METHODOLOGY: Triple blind, randomized, sham-controlled, cross-over trial involving tDCS in children and adolescents with ADHD. Initial screening will be performed using Swanson, Nolan, and Pelham - IVand Wechsler intelligence scale for children fourth edition vocabulary and cube subtests. Individuals will be evaluated pre-tDCS and post-tDCS with the Wechsler intelligence scale for children fourth edition Digitus subtest, neuropsychological assessment battery second edition inhibiting responses subtest, Corsi cubes, and visual attention test-4.

The impact of botulinum toxin type A in the treatment of drooling in children with cerebral palsy secondary to Congenital Zika Syndrome: an observational study.

OBJECTIVE: The main aim of this study was to determine the impact of botulinum toxin A (BTX-A) on severity and frequency of drooling in children with Cerebral Palsy (CP) secondary to Congenital Zika Syndrome (CZS). METHODS: This is a prospective longitudinal observational study including 23 children who received bilateral injections of BTX in the parotid and submandibular glands. The Thomas-Stonell & Greenberg Drooling Severity and Frequency Scale was applied by a multidisciplinary team including Speech, Language and Hearing professionals. The Global Impression of Improvement (GII) Scale was also applied to assess parents' subjective perceptions of therapeutic response. Swallowing was assessed using Doppler ultrasonography. Univariate logistic regression was used to analyse differences between responders and non-responders. RESULTS: Participant age varied from 27 to 38 months (mean 31.78, SD = 2.61) all presented with Gross Motor Function Classification System (GMFCS) V. Drooling Severity and Frequency Scale scores ranged from 7 to 9 points (median = 9) prior to BTX administration and from 4 to 6 (median = 6) after. Pre- and post-treatment reduction in drooling severity occurred (Z = -3.746; p < 0.001). No cases of drooling worsening were reported. Only two subjects presented adverse effects attributed to BTX administration. Correlation was only confirmed with GII. DISCUSSION: This article presents the safe and positive impact of BTX-A administration guided by anatomical references described in the literature, even on children with microcephaly. Further studies are needed to facilitate the use of Doppler ultrasonography as a tool to characterize changes in sensory processing and motor response following intraoral input in children with CP.

Suicidal behavior in individuals with amyotrophic lateral sclerosis: A systematic review.

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) leads to a drastic reduction in quality of life, generating intense psychological distress and predisposing those affected to mental illness and, in more severe cases, suicidal behavior. OBJECTIVE: This is a systematic review aiming to estimate the frequency of wish to die, suicide ideation and suicide in individuals with ALS using the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P). METHODS: The following databases were used: Pubmed/MEDLINE, PsycINFO, Embase, SciELO, Biblioteca Virtual de Saúde (BVS), and Cochrane Library. The choice of appropriate descriptors, or their equivalents, to define the search terms was based on the technical and scientific vocabulary of each database. RESULTS: 13 articles were included in the present systematic review, of which three were cross-sectional studies, nine were cohort-type and there was one case-control study. The studies show that individuals with ALS have a higher risk of suicide in relation to the general population, and there is evidence that this risk is even higher in the early stages of the disease. Major Depressive Disorder was the most prevalent mental disorder in the studies included. This mental health concern is often undertreated, leading to the increased susceptibility of this population to suicide. LIMITATIONS: In general, the study samples represent a highly heterogeneous population while many instruments used in the data collection were not uniform. CONCLUSIONS: The high degree of psychological vulnerability of this population, associated with a greater predisposition to suicidal behavior, should be minimized through public health measures.

The neurodevelopmental spectrum of congenital Zika infection: a scoping review.

AIM: To describe the standardized neurodevelopmental outcomes after the first year of life in children with congenital Zika syndrome (CZS) and those exposed to Zika virus (ZIKV) during fetal life, but without microcephaly at birth. METHOD: This scoping review included observational studies about the standardized neurodevelopmental outcome in children with CZS or exposed to ZIKV, but without microcephaly, assessed after 12 months of age. The databases searched were MEDLINE/Pubmed, LILACS, Scielo, Scopus, PsycINFO, CINAHL, and Embase. Risk of bias was assessed with the Joanna Briggs Institute Critical Appraisal Checklists. RESULTS: Seventeen papers were included: 12 focused on children with CZS, four on children born without microcephaly, and one described both. Only one of the studies about CZS reported a child with microcephaly and typical development; the remainder described a severe pattern of global developmental delay and cerebral palsy. The prevalence of epilepsy was 74.6%. In the reports about children born without microcephaly, 6.9% to 8.7% had some domain with a score below -2 SD, and three children developed autism spectrum disorder. INTERPRETATION: CZS is associated with severe global developmental delay and cerebral palsy after 1 year of age. In children born without microcephaly, although most have typical development, some may be at risk for impairments.

KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.

Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9-year-old boy from Kansas City. We report a case of KPTN-related syndrome in a 5-year-old child which presented macrocephaly, muscular hypotonia, and global development delay. The neurological examination revealed below-expected performance in coordination and balance tests, dyspraxia, and hand-mouth synkinesia. Expressive language was characterized by phono-articulatory imprecision, abundance of phonological processes and morphosyntactic immaturity. Neuropsychological assessment revealed intellectual disability with impairment of verbal and executive functions. Exome sequencing was performed. Analysis revealed a homozygous 2-nucleotide duplication c.597_598dup p.(Ser200Ilefs*55) in the KPTN gene, which is predicted to lead to a translational frameshift and formation of a premature stop codon. The phenotypic profile is similar to the cases described in the other families. Presence of macrocephaly and delayed development indicate the possibility of KPTN gene variation. Genetic testing should be carried out at an early stage in order to reach a timely diagnosis.

Prevalence of depression, anxiety, and substance-related disorders in parents of children with cerebral palsy: a systematic review.

AIM: To estimate the prevalence of mental illness in parents of children with cerebral palsy (CP). METHOD: This is a systematic review that follows the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols in the search for observational studies determining the prevalence of depression, anxiety, and substance abuse in parents of individuals with CP. The information sources used for this study were: PubMed, SciELO, Cochrane Library, Clinical Trials, and Biblioteca Virtual de Saúde. RESULTS: Fourteen articles were selected and included, investigating 1264 mothers and 105 fathers of children with CP. Data extracted for analysis were divided into three categories: study data, data about participants with CP, and data about parents. All studies included volunteer parents, of whom 95 per cent were female. INTERPRETATION: CP is related to a higher prevalence of symptoms of depression and anxiety in parents. Factors such as a child's degree of functionality and socioeconomic level may influence the frequency of mental disorders in parents. However, these studies have heterogeneous samples and applied different criteria to characterize their populations. WHAT THIS PAPER ADDS: Depression and anxiety are more prevalent for parents of children with cerebral palsy (CP) than parents of typically developing children. The child's illness severity is a risk factor for mental illness in parents of children with CP. The more time spent on child care, the higher the risk of mental illness among mothers of children with CP. There is a lack of reliable data in the literature on substance abuse in parents of children with CP.

PREVALENCIA DE DEPRESIÓN, ANSIEDAD Y TRASTORNOS RELACIONADOS AL USO DE SUSTANCIAS EN PADRES DE NIÑOS CON PARÁLISIS CEREBRAL: REVISIÓN SISTEMÁTICA: OBJETIVO: Calcular la prevalencia de enfermedad mental en padres de niños con parálisis cerebral (PC). METODO: Esta es una revisión sistemática que sigue la metodología para Protocolos de Revisiones Sistemáticas y Metaanálisis en la búsqueda de estudios observacionales que determinan la prevalencia de depresión, ansiedad y abuso de sustancias en padres de individuos con PC. Las fuentes de información utilizadas para este estudio fueron: PubMed, SciELO, LILACS, Biblioteca Cochrane, Clinical Trials, y Biblioteca Virtual de Saúde. RESULTADOS: Se seleccionaron e incluyeron 14 artículos, investigando 1.264 madres y 105 padres de niños con PC. Los datos extraídos para análisis fueron divididos en tres categorías: datos de estudio, datos sobre participantes con PC y datos sobre padres. Todos los estudios incluyeron padres voluntarios, de quienes el 95% fueron del sexo femenino. INTERPRETACIÓN: La PC está relacionada a una mayor prevalencia de síntomas de depresión y ansiedad en los padres. Factores como el grado de funcionalidad del niño y el nivel socioeconómico pueden influir en la frecuencia de trastornos cognitivos en los padres. Sin embargo, estos estudios tienen muestras heterogéneas y utilizaron diferentes criterios para caracterizar a las poblaciones.

PREVALÊNCIA DE DEPRESSÃO, ANSIEDADE, E DESORDENS RELACIONADAS AO USO DE SUBSTÂNCIAS EM PAIS DE CRIANÇAS COM PARALISIA CEREBRAL: UMA REVISÃO SISTEMÁTICA: OBJETIVO: Estimar a prevalência de doença mental em pais de crianças com paralisia cerebral (PC). MÉTODO: Esta é uma revisão sistemática que segue o protocol Itens preferenciais para reportar em revisões sistemáticas e metanálises na busca por estudos observacionais que determinassem a prevalência de depressão, ansiedade, e abuso de substâncias nos pais de indivíduos com PC. As fontes de informação usadas para este estudo foram: PubMed, SciELO, LILACS, Cochrane Library, Clinical Trials, e Biblioteca Virtual de Saúde RESULTADOS: Quatorze artigos foram selecionados e incluídos, investigando 1264 mães e 105 pais de crianças com PC. Os dados extraídos para análise foram divididos em três categorias: dados dos estudos, dados sobre os participantes com PC, e dados sobre os pais. Todos os estudos incluíram pais voluntários, dos quais 95 por cento eram mulheres. INTERPRETAÇÃO: A PC se relaciona com maior prevalência de sintomas de depressão e ansiedade em pais. Fatores como grau de funcionalidade da criança e nível socioeconomico podem infuenciar a frequência de desordens cognitivas nos pais. No entanto, estes estudos têm amostras heterogêneas e aplicaram diferentes critérios para caracterizar suas populações.