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. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. OBJECTIVE: To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. METHODS: Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. RESULTS: The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. STUDY LIMITATIONS: Small sample and a limited number of patients with TSC1 pathogenic variants. CONCLUSION: Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.

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 sleep, child, cerebral palsy, parents, and nursing. Studies available in Portuguese, English, or Spanish, published between 2010 and 2020, were our inclusion criteria. A total of 29 articles were included in the present review. RESULTS: We considered nonpharmacological interventions effective support measures to drug-based treatments. The main sleep disorders in children with cerebral palsy are insomnia, parasomnias, nightmares, sleep bruxism, sleepwalking, sleep talking, disorders of initiation and maintenance of sleep, and sleep hyperhidrosis. Most studies point to a reduction in the quality of life of caregivers whose children have sleep disorders. CONCLUSION: Our review suggests the effectiveness of nonpharmacological treatments combined with the use of medications. Measures such as changes in sleep environment and routine are favorable strategies to improve sleep quality. In addition, children with sleep disorders negatively impact the quality of life of their caregivers.

ANTECEDENTES: Crianças com paralisia cerebral apresentam maior prevalência de distúrbios do sono, com inúmeros fatores associados a um impacto negativo na qualidade de vida dos cuidadores. OBJETIVO: Identificar fatores relacionados aos distúrbios do sono, o tratamento não farmacológico e o impacto na vida dos cuidadores. MéTODOS: Esta revisão da literatura foi realizada no Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde (BIREME), Biblioteca Cochrane, Scopus, PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycInfo, WorldCat, Web of Science, Literatura Latino-Americana em Ciências da Saúde (LILACS) e Excerpta Medica Database (EMBASE), com os descritores sono, criança, paralisia cerebral, pais e enfermagem. Estudos disponíveis em português, inglês ou espanhol, publicados entre 2010 e 2020, foram nossos critérios de inclusão. Ao todo, 29 artigos foram incluídos nesta revisão. RESULTADOS: Consideramos as intervenções não farmacológicas medidas eficazes de apoio aos tratamentos medicamentosos. Os principais distúrbios do sono em crianças com paralisia cerebral são: insônia, parassonias, pesadelos, bruxismo do sono, sonambulismo, falar dormindo, distúrbios de iniciação e manutenção do sono e hiperidrose do sono. A maioria dos estudos aponta redução na qualidade de vida de cuidadores de crianças com distúrbios do sono. CONCLUSãO: Nossa revisão sugere a eficácia de tratamentos não farmacológicos combinados com o uso de medicamentos. Medidas como mudanças no ambiente e na rotina do sono são estratégias favoráveis para melhorar a qualidade do sono. Além disso, crianças com distúrbios do sono provocam impactos negativos na qualidade de vida de seus cuidadores.

The effect of constraint-induced movement therapy assessed by accelerometry: the impact on daytime activity and sleep in children with cerebral palsy / O efeito da terapia por contensão induzida avaliada por meio de acelerômetros: o impacto na atividade diurna e no sono em crianças com paralisia cerebral

Abstract Introduction Spastic hemiparetic cerebral palsy (CP) is the most prevalent type of CP. Children with spastic hemiparesis experience difficulties when using their affected upper extremities, and one effective treatment is the Constraint-Induced Movement Therapy (CIMT). The study of rest-activity patterns provides information on children's daily activities with spastic hemiparetic CP during the day and sleep. Objective To investigate the effect of CIMT on the rest-activity patterns in children with spastic hemiparetic CP vs in a healthy group. Methods Nonrandomized controlled trial was conducted at the Neuropediatric Center of the Hospital de Clínicas Complex, in Curitiba, Brazil. Children with spastic hemi-paretic CP between 5 and 16 years old participated in the study group and receive the CIMT. The healthy group was composed of children between 5 and 15 years old. Both groups used accelerometer to record rest-activity patterns, that may be studied through nonparametric variables of accelerometer: M10 (an individual's most active 10h); L5 (an individual's least active 5h); and RA (relative amplitude of the circadian rest-activity patterns). Results Forty-five children were recruited, and 38 were included in the analyses (19 allocated to each group). In the study group, there was a significant increase in M10 and L5 (p < 0.001) after CIMT. The values of M10 and L5 were significantly higher (p < 0.001) in the healthy group compared to the study group after CIMT. Conclusion Our results showed that children with spastic hemiparetic CP became more active and participant in their daily life during the day as well as more efficient sleeping.

Resumo Introdução A paralisia cerebral (PC) hemiparética espástica é o tipo de PC mais prevalente. Crianças com hemiparesia es-pástica apresentam dificuldades ao usar as extremidades superiores afetadas e um tratamento eficaz é a Terapia por Contensão Induzida (TCI). O estudo dos padrões de atividade-repouso fornece informações sobre as atividades diárias de crianças com PC hemiparética espástica durante o dia e o sono. Objetivo Investigar o efeito da TCI nos padrões de repouso-atividade em crianças com PC hemiparética espástica versus um grupo saudável. Métodos Realizou-se um ensaio controlado não randomizado no Centro de Neuropediatria do Complexo do Hospital de Clínicas, Curitiba, Brasil. Crianças com PC hemi-parética espástica entre 5 e 16 anos participaram do grupo de estudo e receberam a TCI. O grupo saudável foi composto por crianças entre 5 e 15 anos. Ambos os grupos utilizaram um acelerômetro para registrar padrões de atividade-repouso, os quais podem ser estudados através de variáveis não paramé-tricas do acelerômetro: M10 (10h mais ativas de um indivíduo); L5 (5h menos ativas de um indivíduo); e AR (amplitude rela-tiva dos padrões de atividade-repouso). Resultados Foram recrutadas 45 crianças e 38 foram incluídas nas análises (19 alocadas em cada grupo). No grupo de estudo, houve aumento significativo de M10 e L5 (p < 0,001) após TCI. Os valores de M10 e L5 foram significativamente maiores (p < 0,001) no grupo saudável em comparação ao grupo de estudo após TCI. Conclusão Os resultados do presente estudo mostraram que crianças com PC hemiparética espástica tornaram-se mais ativas e participantes de sua vida diária durante o dia, bem como dormiram mais eficientemente.

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. METHODS: We assessed 1,187 patients with Down syndrome, older than 4 years old, with an adaptation of the Personal Outcomes Scale validated for Portuguese language, interviewing patients, parents, and caregivers. RESULTS: A bad quality of life was reported in 56.4% of the sample. The main factors associated with better quality of life were female sex, first medical visit before 4 months old, higher parental education, a professionally active mother, and prenatal care. The main factors associated with worse quality of life were family history of alcohol abuse and psychiatric disorders and comorbidity with autism and epilepsy. CONCLUSION: Clinical comorbidities such as autism and epilepsy carry a heavy burden among patients with Down syndrome, while factors related to family support, such as employment status and educational background of the parents, enhance quality of life. The factors associated with quality of life among patients with Down syndrome should be adequately evaluated in medical consultation and targeted in public health policies.

ANTECEDENTES: A síndrome de Down é a mais comum causa identificável de atraso de desenvolvimento e deficiência intelectual, afetando 1 a cada 700 nascidos vivos. Está associada a cardiopatias, infecções recorrentes e outras complicações que impactam significativamente a qualidade de vida dos pacientes. OBJETIVO: Avaliar os principais fatores associados a qualidade de vida em uma coorte de pacientes com Síndrome de Down. MéTODOS: Avaliamos 1.187 pacientes com síndrome de Down com mais de 4 anos de idade utilizando uma adaptação da versão validada para o português da Escala Pessoal de Resultados, entrevistando pacientes, pais e cuidadores. RESULTADOS: Uma má qualidade de vida foi encontrada em 56.4% da amostra. Os principais fatores associados à melhor qualidade de vida foram sexo feminino, primeira consulta médica antes dos 4 meses de idade, maior nível educacional dos pais, mãe profissionalmente ativa e atenção pré-natal. Os principais fatores associados à pior qualidade de vida foram o histórico familiar de abuso de álcool e distúrbios psiquiátricos, além de comorbidade com autismo e epilepsia. CONCLUSãO: As comorbidades clínicas como autismo e epilepsia levam a um maior impacto entre os pacientes com síndrome de Down, enquanto fatores relacionados ao apoio familiar, como situação profissional e formação educacional dos pais, estão associados à melhor qualidade de vida. Os fatores associados à qualidade de vida de pacientes com síndrome de Down devem ser adequadamente avaliados em consulta médica e alvo de políticas públicas de saúde.

Quality of life in Down syndrome in Brazil: a cross-sectional study / Qualidade de vida na síndrome de Down no Brasil: um estudo transversal

Abstract 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. Methods We assessed 1,187 patients with Down syndrome, older than 4 years old, with an adaptation of the Personal Outcomes Scale validated for Portuguese language, interviewing patients, parents, and caregivers. Results A bad quality of life was reported in 56.4% of the sample. The main factors associated with better quality of life were female sex, first medical visit before 4 months old, higher parental education, a professionally active mother, and prenatal care. The main factors associated with worse quality of life were family history of alcohol abuse and psychiatric disorders and comorbidity with autism and epilepsy. Conclusion Clinical comorbidities such as autism and epilepsy carry a heavy burden among patients with Down syndrome, while factors related to family support, such as employment status and educational background of the parents, enhance quality of life. The factors associated with quality of life among patients with Down syndrome should be adequately evaluated in medical consultation and targeted in public health policies.

Resumo Antecedentes A síndrome de Down é a mais comum causa identificável de atraso de desenvolvimento e deficiência intelectual, afetando 1 a cada 700 nascidos vivos. Está associada a cardiopatias, infecções recorrentes e outras complicações que impactam significativamente a qualidade de vida dos pacientes. Objetivo Avaliar os principais fatores associados a qualidade de vida em uma coorte de pacientes com Síndrome de Down. Métodos Avaliamos 1.187 pacientes com síndrome de Down com mais de 4 anos de idade utilizando uma adaptação da versão validada para o português da Escala Pessoal de Resultados, entrevistando pacientes, pais e cuidadores. Resultados Uma má qualidade de vida foi encontrada em 56.4% da amostra. Os principais fatores associados à melhor qualidade de vida foram sexo feminino, primeira consulta médica antes dos 4 meses de idade, maior nível educacional dos pais, mãe profissionalmente ativa e atenção pré-natal. Os principais fatores associados à pior qualidade de vida foram o histórico familiar de abuso de álcool e distúrbios psiquiátricos, além de comorbidade com autismo e epilepsia. Conclusão As comorbidades clínicas como autismo e epilepsia levam a um maior impacto entre os pacientes com síndrome de Down, enquanto fatores relacionados ao apoio familiar, como situação profissional e formação educacional dos pais, estão associados à melhor qualidade de vida. Os fatores associados à qualidade de vida de pacientes com síndrome de Down devem ser adequadamente avaliados em consulta médica e alvo de políticas públicas de saúde.

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. The phenomenology presented a complex set of symptoms, including chorea, interspersed with dystonic and uncoordinated movements. All patients presented also hypotonia, nystagmus, feeding difficulties, craniofacial dysmorphisms. Hypersomnolence and breathing problems were common and observed in three patients, while seizures were found in three patients. Conclusions: PURA syndrome may be considered in the differential diagnosis of infants with severe hypotonia, feeding difficulties and severe developmental delay with epileptic seizures, that start to develop a mixed hyperkinetic movement disorder. These complex movements may be an important clue for the diagnosis of this rare disorder.

Cannabidiol for the treatment of refractory epilepsy in children: a critical review of the literature / Canabidiol para o tratamento de epilepsia refratária em crianças: uma revisão crítica da literatura

Abstract 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. A total of 69 articles were included in the review. Data synthesis: The efficacy of CBD in treating epileptic seizures has been confirmed by randomized controlled trials for Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex. The incidence of side effects reported in subjects of the studies is high. However, most studies indicate a good safety profile and tolerance to the drug, with most of the adverse effects being mild to moderate and transient. Conclusions: There is no consensus on the release of CBD as a therapeutic tool by the drug regulatory agencies worldwide. However, the use of CBD is promising since it has presented satisfactory results in crisis control in well-designed studies. In addition, this drug has a good safety and tolerance profile. However, further studies with a long follow-up period are needed to confirm its usefulness and the long-term safety in pediatric patients.

RESUMO Objetivo: Apresentar uma revisão crítica do uso de canabidiol no tratamento de epilepsias refratárias na população pediátrica. Fontes de dados: Revisão da literatura realizada nas bases de dados Medical Literature Analysis and Retrieval System Online (Medline/PubMed), Cochrane e Scientific Electronic Library Online (SciELO), com os descritores "cannabidiol" e "epilepsy". A busca não foi limitada por data de publicação, idioma ou desenho do estudo. Sessenta e nove artigos foram incluídos na revisão. Síntese dos dados: A eficácia do canabidiol no tratamento de crises epilépticas foi confirmada por ensaios clínicos randomizados para síndrome de Lennox-Gastaut, síndrome de Dravet e complexo de esclerose tuberosa. A incidência de efeitos colaterais relatados nos indivíduos dos estudos é alta. No entanto, a maioria dos estudos indica um bom perfil de segurança e tolerância ao medicamento, com efeitos adversos leves a moderados e transitórios. Conclusões: Não há consenso sobre a liberação do canabidiol como ferramenta terapêutica nas diversas agências reguladoras de medicamentos em todo o mundo. Entretanto, seu uso é promissor, uma vez que apresentou resultados satisfatórios no controle de crises em estudos bem delineados. Além disso, esse medicamento apresenta um bom perfil de segurança e tolerância. No entanto, mais estudos com longo período de acompanhamento são necessários para confirmar sua utilidade e sua segurança em longo prazo em pacientes pediátricos.

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

Background: 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. Methods: We analyzed infants treated in two neuropediatric centers from 2001-2021. We reviewed perinatal and familial history of epilepsy, spasm onset, treatment lag, electroencephalogram, neuroimaging, progression to epilepsy, and other neurological conditions. The outcomes were electroclinical resolution (ECR), relapses, and epilepsy progression. Results: Nineteen infants were included; 57.8% were male. The average spasm onset, follow-up, and treatment lag were 6.4 months, 8.15 years, and 2.33 months, respectively. Almost 74% had ECR after protocol intervention and minor epilepsy progression. Relapses occurred during combined therapy. Conclusions: The treatment protocol, especially combined therapy, was effective for WS in DS, impacting epilepsy progression and indicating the effectiveness of combined therapy to treat WS in patients with trisomy 21.

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. The treatment of ASD has low efficacy, possibly because it has a heterogeneous nature, and its neurobiological basis is not clearly understood. Drugs such as risperidone and aripiprazole are the only two drugs available that are recognized by the Food and Drug Administration, primarily for treating the behavioral symptoms of this disorder. These drugs have limited efficacy and a high potential for inducing undesirable effects, compromising treatment adherence. Therefore, there is great interest in exploring the endocannabinoid system, which modulates the activity of other neurotransmitters, has actions in social behavior and seems to be altered in patients with ASD. Thus, cannabidiol (CBD) emerges as a possible strategy for treating ASD symptoms since it has relevant pharmacological actions on the endocannabinoid system and shows promising results in studies related to disorders in the central nervous system. OBJECTIVES: Review the preclinical and clinical data supporting CBD's potential as a treatment for the symptoms and comorbidities associated with ASD, as well as discuss and provide information with the purpose of not trivializing the use of this drug.

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. A total of 69 articles were included in the review. DATA SYNTHESIS: The efficacy of CBD in treating epileptic seizures has been confirmed by randomized controlled trials for Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex. The incidence of side effects reported in subjects of the studies is high. However, most studies indicate a good safety profile and tolerance to the drug, with most of the adverse effects being mild to moderate and transient. CONCLUSIONS: There is no consensus on the release of CBD as a therapeutic tool by the drug regulatory agencies worldwide. However, the use of CBD is promising since it has presented satisfactory results in crisis control in well-designed studies. In addition, this drug has a good safety and tolerance profile. However, further studies with a long follow-up period are needed to confirm its usefulness and the long-term safety in pediatric patients.

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. All patients developed asymmetric, involuntary movements, with phenomenology characteristic of dyskinesia. The patients did not manifest loss of consciousness, and the EEG did not show epileptic activity during those episodes. In all cases, involuntary movements disappeared after the completion of the hormonal therapy. CONCLUSIONS The adverse effect of hormonal therapy in infantile spasms is not well known in the literature and could be mistaken as seizures, leading to inappropriate management.

Central Auditory Processing and Cognitive Functions in Children

Abstract Introduction 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. Objective To investigate possible associations between auditory abilities and cognitive functions in schoolchildren. Methods Fifty-eight schoolchildren, aged between 8 years and 0 months old and 11 years and 11 months old, who underwent the following tests: masking level difference, gaps in noise, pitch pattern sequence test, dichotic digits test, sustained auditory attention ability test, Wechsler intelligence scale for children - IV, junior Hayling test, five digits test, and behavior rating inventory of executive function. Results Significant correlations were found between the hearing ability of temporal resolution and executive functions, temporal ordering/sequencing, binaural integration and separation, and sustained auditory attention, operational memory, inhibitory control, and cognitive flexibility; binaural integration was also associated with intelligence. The statistically significant positive correlation found between the ability of binaural interaction and the components of emotional control and behavior regulation of the behavior rating inventory of executive function was unexpected. Conclusion The associations identified reinforce the complexity of the tasks involved in the evaluation of central auditory processing and the need for multidisciplinary evaluation for the differential diagnosis of auditory processing disorder. Confirmation of the presence or absence of comorbidities between different disorders allows directing the therapeutic behaviors and reducing the impact of possible auditory and/or cognitive deficits in the different daily life situations of children.

Central Auditory Processing and Cognitive Functions in Children.

Introduction 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. Objective To investigate possible associations between auditory abilities and cognitive functions in schoolchildren. Methods Fifty-eight schoolchildren, aged between 8 years and 0 months old and 11 years and 11 months old, who underwent the following tests: masking level difference, gaps in noise, pitch pattern sequence test, dichotic digits test, sustained auditory attention ability test, Wechsler intelligence scale for children - IV, junior Hayling test, five digits test, and behavior rating inventory of executive function. Results Significant correlations were found between the hearing ability of temporal resolution and executive functions, temporal ordering/sequencing, binaural integration and separation, and sustained auditory attention, operational memory, inhibitory control, and cognitive flexibility; binaural integration was also associated with intelligence. The statistically significant positive correlation found between the ability of binaural interaction and the components of emotional control and behavior regulation of the behavior rating inventory of executive function was unexpected. Conclusion The associations identified reinforce the complexity of the tasks involved in the evaluation of central auditory processing and the need for multidisciplinary evaluation for the differential diagnosis of auditory processing disorder. Confirmation of the presence or absence of comorbidities between different disorders allows directing the therapeutic behaviors and reducing the impact of possible auditory and/or cognitive deficits in the different daily life situations of children.

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). RESULTS: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2-associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs∗7) and p.(Tyr132Cys)] were detected. CONCLUSION: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.

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). RESULTS: Our sample was comprised of 87 participants with mean age of 11.4 years old (±3.4). We observed correlations between GMFM-88 and disorders of initiating and maintaining sleep (DIMS) (r = -0.22; p = 0.039), sleep-wake transition disorders (SWTD) (r = 0.26; p = 0.017) and disorders of arousal (DA) (r = 0.23; p = 0.033). Children receiving nocturnal support presented lower scores in the GMFM-88 (p = 0.001) and higher scores in the SDSC (p = 0.029). For the caregivers, we found no correlation between GMFM-88 and PSQI. Nonetheless, their PSQI scores correlated with the SDSC scores (r = 0.24; p = 0.027). CONCLUSION: Impairment of the gross motor function correlated with DIMS and the need for nocturnal support but might not have an impact on the caregivers' sleep, which in turn correlated with child sleep disorders.

Modelo de avaliação de transtornos de aprendizagem por equipe interdisciplinar / Evaluation model of learning disorders by interdisciplinary team

Observa-se um aumento progressivo da evasão escolar e do fracasso acadêmico. A demanda por avaliação e diagnóstico sobre questões de aprendizagem está crescendo nos serviços públicos de saúde. Para direcionar os métodos de intervenção e minimizar as dificuldades de aprendizagem, é necessário identificar os fatores que levam ao fracasso escolar e diferenciar as dificuldades escolares. O presente estudo tem como objetivo descrever o modelo de avaliação interdisciplinar realizado no Ambulatório de Transtornos de Aprendizagem (ATA) do Centro de Neuropediatria do Hospital das Clínicas da Universidade Federal do Paraná e relatar três casos avaliados. Os dados apresentados neste estudo baseiam-se em 56 avaliações realizadas em crianças e adolescentes com queixas de dificuldades de aprendizagem, a fim de caracterizar a população atendida, o modelo de avaliação aplicado e as conclusões da equipe interdisciplinar. Nesta amostra, a maior frequência foi do sexo masculino (78,6%), com idade média de 10 anos e 5 meses. As dificuldades escolares foram percebidas em 44,6% dos casos, o transtorno de aprendizagem em 7,1% e outros transtornos em 17,9%. Esses resultados coincidem com outros estudos sobre dificuldades de aprendizagem e demonstram que o modelo utilizado pelo ATA é eficaz para concluir sobre a proposta diagnóstica e de intervenção.

There is a progressive increase of student evasion as well as of academic failure. The demand for evaluation and diagnosis about learning issues is growing up in the public health service care. In order to direct the intervention methods and minimize the learning difficulties is necessary identify the factors that lead to academic failure and differentiate the learning disabilities. The present study aims to describe the interdisciplinary model for evaluation performed at the Learning Disorder Clinic (ATA) of the Neuropediatrics Center at Hospital das Clínicas from Universidade Federal do Paraná and report three evaluated cases. The data presented in this study are based on 56 evaluations performed in children and adolescents with complaints of learning difficulties in order to characterize the population served, the evaluation model applied and the conclusions from the interdisciplinary team. On this sample, the highest frequency was from males (78.6%) aged on average 10 years and 5 months. The learning difficulties was noticed in 44.6% of the cases, the leaning disorder in 7.1% and other disorders in 17.9%. These results are in agreement with other studies about learning disabilities and demonstrates that the model used by ATA is effective to conclude about diagnostic and intervention proposal.