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LAY ABSTRACT: Caregivers of children with developmental disabilities, including autism, often struggle to access services, information and resources in Argentina. Little is known about how caregivers can be empowered to support their children as they wish to in the Argentinian setting. We spoke with 32 people online to understand existing and potential practices of supporting caregivers. The people we spoke with included caregivers, health service providers, non-governmental organisations' representatives providing services or technical support, special education teachers and policy representatives. Participants said that poverty, and inequalities in accessing support, impact how caregivers can support their children. They mentioned examples that help caregivers feel empowered, such as peer support groups and caregiver training. Many caregivers spoke about how they became advocates for their children and how they developed initiatives such as advocacy campaigns and well-being support groups. Caregivers in Argentina may be empowered in various ways, and the following strategies can improve empowerment: strengthening collaboration between professionals and caregivers; focusing on caregiver mental health; and addressing the profound impact of poverty on the quality of life of families.

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OBJECTIVE: This study aims to investigate the relationship between the Developmental Surveillance Instrument -Instrumento de Vigilância do Desenvolvimento (IVD), found in the Child's Booklet Caderneta da Crianca (CC), and standardized scales: Alberta Infant Motor Scale (AIMS) and Denver Developmental Screening Test (Denver-II). METHODS: Employing an exploratory observational approach, we adopted a prospective longitudinal design with a quantitative approach. The convenience sample included 83 Brazilian children born between May and August 2019 in a public hospital. Of the total, 45 (54.22 %) were male, and 38 (45.78 %) were female. Developmental screening utilized the IVD, AIMS and Denver-II tests. Comparative analysis between groups employed Mann-Whitney or Kruskal-Wallis tests for numerical variables and chi-square/Fisher tests for categorical variables, with a significance level of 5 % (p < 0.05). RESULTS: A significant correlation was observed between the IVD and the AIMS and Denver-II tests (p < 0.001) at months 1, 4, and 8. CONCLUSION: The presence of a robust correlation between the IVD and the AIMS and Denver-II tests at months 1, 4, and 8 implies that the IVD in the Child's Booklet serves as a reliable and effective indicator for screening infant development during this critical period. Detecting issues early through these methods is crucial to ensure the well-being of children, allowing for appropriate interventions as needed.

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Objective The present paper aims to provide a review on the main complications involving traumatic brain injury (TBI) during pregnancy and on the vegetative state after TBI. Methods A systematic review was performed in concordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria checklist. Results Seven studies were included, of which four were case reports, one was a follow-up, one was a comparative study, and one was a literature review. Discussion Presence of neurological deficits such as hemiparesis, neonatal seizures, cerebral palsy, hemorrhage or hydrocephalus was observed in children of mothers who suffered trauma during pregnancy. The prolongation of a pregnancy in these victims, even in brain death, is within the reach of current medicine. Ethical issues must be considered when deciding to prolong a pregnancy of a woman in brain death. Conclusion For the evaluation of pregnant women with TBI, there is a protocol that can be followed in the emergency care service. The cases reported in the literature suggest that there is no clear limit to restrict support to a pregnant patient in a vegetative state. Further studies should be done to elucidate this matter.

Objetivo O presente artigo buscou revisar as principais complicações envolvendo lesão cerebral traumática durante a gravidez e sobre estado vegetativo após esse trauma. Métodos Uma revisão sistemática foi realizada de acordo com o checklist dos critérios Principais itens para relatar Revisões sistemáticas e Metanálises (PRISMA, na sigla em inglês). Resultados Sete estudos foram incluídos, dos quais quatro eram relatos de caso, um era um acompanhamento, um era um estudo comparativo, e um era uma revisão de literatura. Discussão Presença de déficit neurológico como hemiparesias, convulsões neonatais, paralisia cerebral, hemorragia e hidrocefalia foram observadas em crianças cuja mãe sofreu trauma durante a gravidez. O prolongamento da gravidez nessas vítimas, mesmo nos casos de morte cerebral, está ao alcance da medicina atual. Dilemas éticos devem ser considerados na decisão de prolongar a gravidez em mulheres com trauma cerebral. Conclusão Para avaliação de grávidas com trauma cerebral, existe um protocolo que pode ser seguido em serviços de emergência. Os casos relatados na literatura sugerem que não há um limite claro para restringir o suporte a uma paciente grávida em estado vegetativo. Mais estudos devem ser realizados para elucidar a questão.

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The municipality of Salvador, situated in Brazil, distinguished itself as the epicenter of the emergence of microcephaly related to congenital manifestations of Zika syndrome. Despite the anticipated significant developmental setbacks in these children, research has indicated a varied range of outcomes, with certain instances even reflecting minimal developmental delay. Our objective was to pinpoint determinants that could forecast developmental anomalies in children diagnosed with microcephaly associated with congenital Zika syndrome (CZS). METHODOLOGY: A forward-looking clinical and neurodevelopmental examination was conducted focusing on neonates diagnosed with microcephaly with CZS, birthed between September 2015 and April 2016 at the Hospital Geral Roberto Santos, in Salvador city. That infants were monitored up to their third year by a multiprofessional team. Child development was assessed using the composite Bayley III score. Undertaken by two blinded experts, cranial CT scan analysis was performed during the neonate period for the detection of brain abnormalities and to quantify ventricle enlargement, measured by Evans' index (EI). RESULTS: Fifty newborns were evaluated with a median head circumference of 28 cm (interquartile range 27-31 cm). EI was associated with neurodevelopmental delay at three years and remained significant after adjustment for head circumference. A 0.1-point increase in EI was associated with a delay of 3.2 months in the receptive language (p = 0.016), 3.4 months in the expressive language (p = 0.016), 3.4 months in the cognitive (p = 0.016), 2.37 months in the gross motor (p = 0.026), and 3.1 months in the fine motor (p = 0.021) domains. CONCLUSIONS: EI predicted neurodevelopmental delay in all Bayley domains in children with microcephaly associated with CZS.

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Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.

El síndrome de X frágil es causado por la expansión de tripletas CGG en el gen FMR1, el cual genera cambios epigenéticos que silencian su expresión. La ausencia de la proteína codificada por este gen, la FMRP, causa disfunción celular, llevando a deficiencia en el desarrollo cerebral y anormalidades funcionales. Las manifestaciones físicas y neurológicas de la enfermedad aparecen en edades tempranas y pueden sugerir el diagnóstico. Sin embargo, este debe ser confirmado por pruebas moleculares. El síndrome afecta múltiples aspectos de la vida diaria y representa una alta carga para los individuos afectados y para sus familias. El síndrome de C frágil es la causa monogénica más común de discapacidad intelectual y trastornos del espectro autista; por ende, el diagnóstico debe sospecharse en todo paciente con retraso del neurodesarrollo. Intervenciones tempranas podrían mejorar el pronóstico funcional de pacientes con síndrome de X frágil, impactando significativamente su calidad de vida y funcionamiento. Por lo tanto, la atención en salud de niños con síndrome de X frágil debe incluir un abordaje multidisciplinario.

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OBJECTIVE: To survey the incidence of intraventricular hemorrhage (IVH) and periventricular leukomalacia (PVL) by gestational age and to report the impact on mortality and neurodevelopmental outcome in very preterm/very low birthweight infants. STUDY DESIGN: This was a population-based cohort study of 1927 very preterm/very low birthweight infants born in 2014-2016 and admitted to Flemish neonatal intensive care units. Infants underwent standard follow-up assessment until 2 years corrected age with the Bayley Scales of Infant and Toddler Development and neurological assessments. RESULTS: No brain lesion was present in 31% of infants born at <26 weeks of gestation and 75.8% in infants born at 29-32 weeks of gestation. The prevalence of low-grade IVH/PVL (grades I and II) was 16.8% and 12.7%, respectively. Low-grade IVH/PVL was not related significantly to an increased likelihood of mortality, motor delay, or cognitive delay, except for PVL grade II, which was associated with a 4-fold increase in developing cerebral palsy (OR, 4.1; 95% CI, 1.2-14.6). High-grade lesions (III-IV) were present in 22.0% of the infants born at <26 weeks of gestational and 3.1% at 29-32 weeks of gestation, and the odds of death were ≥14.0 (IVH: OR, 14.0; 95% CI, 9.0-21.9; PVL: OR, 14.1; 95% CI, 6.6-29.9). PVL grades III-IV showed an increased odds of 17.2 for motor delay and 12.3 for cerebral palsy, but were not found to be associated significantly with cognitive delay (OR, 2.9; 95% CI, 0.5-17.5; P = .24). CONCLUSIONS: Both the prevalence and severity of IVH/PVL decreased significantly with advancing gestational age. More than 75% of all infants with low grades of IVH/PVL showed normal motor and cognitive outcome at 2 years corrected age. High-grade PVL/IVH has become less common and is associated with adverse outcomes.

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BACKGROUND: Child development is a complex biological, psychological, and emotional process. Timely screening for developmental delay allows early interventions. Therefore, this study sought to assess the frequency and characteristics of developmental delay in children < 5 years of age who attended the Pediatric Rehabilitation Service of a referral hospital in Peru. METHODS: We conducted a cross-sectional study. Information was collected from medical records of children < 5 years of age who attended between April and September 2022 at the Rebagliati Hospital's Pediatric Rehabilitation Service. The REBA-PED Child Developmental Assessment Profile was used for the developmental assessment, which allows to identify the degree of delay in each area (gross motor, fine motor, hearing and language, intelligence and learning, and personal-social) and the presence of warning signs. RESULTS: Of 226 children who attended the service, 49.1% were between 3 and 5 years old, 57.1% were female, only 3.1% were referred for suspected developmental delay, and none had had a previous developmental assessment. Among the children evaluated, 12.4% had a simple developmental delay, 19.5% had a significant developmental delay, and 53.5% had a global developmental delay. In addition, 70.8% presented a warning sign of developmental delay. Hearing and language (86.8%) and intelligence and learning (83.5%) areas had a higher frequency of significant developmental delay. CONCLUSIONS: We found a high frequency of developmental delay in the children assessed, predominantly in hearing and language. Although all the children were referred, none had had a previous developmental assessment.

INTRODUCCIÓN: El desarrollo infantil es un proceso complejo de cambios biológicos, psicológicos y emocionales. El despistaje oportuno del retraso del desarrollo permite implementar intervenciones tempranas. Este estudio buscó evaluar la frecuencia y las características del retraso del desarrollo en niños < 5 años atendidos en el Servicio de Rehabilitación Pediátrica de un hospital de referencia de Perú. MÉTODOS: Se llevó a cabo un estudio transversal en el que se recolectó información de niños < 5 años atendidos entre abril y septiembre del 2022 en el Servicio de Rehabilitación Pediátrica del Hospital Rebagliati, para lo cual se revisaron sus historias clínicas. Para la evaluación del desarrollo, se utilizó el Perfil de Evaluación del Desarrollo Infantil REBA-PED, que permite reconocer el grado de retraso por área (motora gruesa, motora fina, audición y lenguaje, inteligencia y aprendizaje, y personal social) y los signos de alarma. RESULTADOS: De 226 niños atendidos, el 49.1% tenía entre 3 a 5 años, el 57.1% era de sexo femenino, solo el 3.1% fue remitido por sospecha de retraso del desarrollo y ninguno había tenido una evaluación previa del desarrollo infantil. Entre los niños evaluados, el 12.4% presentó un retraso simple del desarrollo, el 19.5% presentó un retraso significativo y el 53.5%, un retraso global. Además, el 70.8% presentó algún signo de alarma durante el desarrollo infantil. La frecuencia de retraso significativo fue mayor en las áreas de audición y lenguaje (86.8%) y de inteligencia y aprendizaje (83.5%) tuvieron mayor frecuencia de retraso significativo. CONCLUSIONES: Se encontró una frecuencia elevada de retraso del desarrollo entre los niños evaluados, con predominio del área de audición y lenguaje. Si bien todos los niños fueron referidos, ninguno había tenido una evaluación previa del desarrollo.

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IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.

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Abstract Background: Child development is a complex biological, psychological, and emotional process. Timely screening for developmental delay allows early interventions. Therefore, this study sought to assess the frequency and characteristics of developmental delay in children < 5 years of age who attended the Pediatric Rehabilitation Service of a referral hospital in Peru. Methods: We conducted a cross-sectional study. Information was collected from medical records of children < 5 years of age who attended between April and September 2022 at the Rebagliati Hospital's Pediatric Rehabilitation Service. The REBA-PED Child Developmental Assessment Profile was used for the developmental assessment, which allows to identify the degree of delay in each area (gross motor, fine motor, hearing and language, intelligence and learning, and personal-social) and the presence of warning signs. Results: Of 226 children who attended the service, 49.1% were between 3 and 5 years old, 57.1% were female, only 3.1% were referred for suspected developmental delay, and none had had a previous developmental assessment. Among the children evaluated, 12.4% had a simple developmental delay, 19.5% had a significant developmental delay, and 53.5% had a global developmental delay. In addition, 70.8% presented a warning sign of developmental delay. Hearing and language (86.8%) and intelligence and learning (83.5%) areas had a higher frequency of significant developmental delay. Conclusions: We found a high frequency of developmental delay in the children assessed, predominantly in hearing and language. Although all the children were referred, none had had a previous developmental assessment.

Resumen Introducción: El desarrollo infantil es un proceso complejo de cambios biológicos, psicológicos y emocionales. El despistaje oportuno del retraso del desarrollo permite implementar intervenciones tempranas. Este estudio buscó evaluar la frecuencia y las características del retraso del desarrollo en niños < 5 años atendidos en el Servicio de Rehabilitación Pediátrica de un hospital de referencia de Perú. Métodos: Se llevó a cabo un estudio transversal en el que se recolectó información de niños < 5 años atendidos entre abril y septiembre del 2022 en el Servicio de Rehabilitación Pediátrica del Hospital Rebagliati, para lo cual se revisaron sus historias clínicas. Para la evaluación del desarrollo, se utilizó el Perfil de Evaluación del Desarrollo Infantil REBA-PED, que permite reconocer el grado de retraso por área (motora gruesa, motora fina, audición y lenguaje, inteligencia y aprendizaje, y personal social) y los signos de alarma. Resultados: De 226 niños atendidos, el 49.1% tenía entre 3 a 5 años, el 57.1% era de sexo femenino, solo el 3.1% fue remitido por sospecha de retraso del desarrollo y ninguno había tenido una evaluación previa del desarrollo infantil. Entre los niños evaluados, el 12.4% presentó un retraso simple del desarrollo, el 19.5% presentó un retraso significativo y el 53.5%, un retraso global. Además, el 70.8% presentó algún signo de alarma durante el desarrollo infantil. La frecuencia de retraso significativo fue mayor en las áreas de audición y lenguaje (86.8%) y de inteligencia y aprendizaje (83.5%) tuvieron mayor frecuencia de retraso significativo. Conclusiones: Se encontró una frecuencia elevada de retraso del desarrollo entre los niños evaluados, con predominio del área de audición y lenguaje. Si bien todos los niños fueron referidos, ninguno había tenido una evaluación previa del desarrollo.

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Resumen En el actual escenario sociosanitario enfrentado a raíz de la pandemia por SARS-CoV-2, múltiples actividades se han visto mermadas, e incluso, suspendidas por los largos periodos de aislamiento social y las medidas de cuidado para evitar contagios. En este sentido, muchas personas han dejado de recibir con la misma regularidad, o bajo las mismas circunstancias, sus tratamientos, incluyendo a niños con Trastornos del Neurodesarrollo (TND). Es así como surgen las intervenciones Parentales. Estas son programas donde los padres o cuidadores primarios son entrenados para llevar a cabo acciones terapéuticas con el niño y cuyo objetivo puede estar orientado a promover múltiples habilidades. El objetivo de la presente revisión sistemática fue determinar el efecto de estas intervenciones para promover el lenguaje y la comunicación en niños con diagnóstico de TND de entre 2 y 5 años. Se realizó una búsqueda sistemática en las bases de datos ERIC, MEDLINE y PubMed, considerando publicaciones de entre enero del 2010 y marzo de 2022. De las 9885 referencias iniciales, y posterior a las etapas de tamizaje y elegibilidad, 5 fuentes primarias cumplieron con los criterios de selección. Los resultados indican que las intervenciones parentales para habilidades de comunicación serían efectivas e incluso se mantendrían los efectos en medidas de seguimiento. En cuanto a las habilidades de lenguaje, los resultados a través de los estudios son contradictorios. Por otra parte, ninguno de los estudios reporta efectos adversos para los niños. En cuanto a efectos beneficios o adversos para padres o cuidadores primarios, ninguno de los estudios incluidos reporta medidas asociadas.

Abstract In the current socio-sanitary scenario that we are facing as a result of the SARS-CoV-2 Pandemic, there have been many activities that have been reduced and even suspended due to long periods of social isolation and care measures to avoid contagion. In this sense, many people have stopped receiving their treatments with the same regularity or under the same circumstances, including children with Neurodevelopmental Disorders. This is how parental interventions correspond to programs where parents or primary caregivers are trained to carry out therapeutic actions with the child and whose objective may be aimed at promoting multiple skills. The objective of this systematic review was to determine the effect of these interventions to promote language and communication in children diagnosed with Neurodevelopmental Disorders between 2 and 5 years of age. A systematic search was carried out in the ERIC, MEDLINE and PubMed databases including publications between January 2010 and March 2022. Of the 9885 initial references, and after the screening and eligibility stages, 5 primary sources met the selection criteria. The results indicate that parental interventions for communication skills would be effective, and the effects would even be maintained in follow-up measures. Regarding language skills, the results across studies are contradictory. On the other hand, none of the studies reported adverse effects for children. Regarding beneficial or adverse effects for parents or primary caregivers, none of the included studies reported associated measures.

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Introducción: Es importante conocer el desarrollo psicomotor de los niños con parálisis cerebral de acuerdo con sus características sociodemográficas y clínicas para realizar un mejor tratamiento en este tipo de pacientes. Objetivo: Describir el desarrollo psicomotor según las características sociodemográficas y clínicas de niños hasta 36 meses con parálisis cerebral. Métodos: Estudio observacional, descriptivo, de corte transversal con datos retrospectivos. Se revisaron 177 historias clínicas de pacientes con diagnóstico de parálisis cerebral de 0 a 36 meses, atendidos del 1 de enero de 2015 al 31 de diciembre de 2016 en un instituto nacional de rehabilitación de Lima, Perú. Resultados: La edad promedio fue 25,1 ± 7,16 meses, el 58,19 % fue del sexo masculino, el grupo etario de 25-36 meses representó el 67,89 %, predominó la parálisis cerebral espástica cuadripléjica con 28,25 %, el 14,12 % tenía alteración en la audición y el 19,21 % convulsiones. El promedio de porcentajes de desarrollo psicomotor global fue de 62,66 %; los menores promedios fueron para el comportamiento motor grueso (57,15 %), el grupo etario de 0 a 12 meses (51,49 %), las niñas (57,72 %), la parálisis cerebral espástica cuadriplejia (42,55 %), niños con alteración auditiva y visual (36,92 %), con convulsiones (46,17 %) y prematuros (58,26 %). Conclusiones: Los niños hasta 36 meses con parálisis cerebral tienen un retraso global del desarrollo psicomotor de aproximadamente el 35 %, con mayor afectación los de menor edad, las niñas, los que tienen parálisis cerebral espástica cuadripléjica, alteración auditiva y visual, convulsiones y son prematuros.

Introduction: It is important to know the psychomotor development of children with cerebral palsy according to their sociodemographic and clinical characteristics to carry out a better approach in this type of patients. Objective: To describe the psychomotor development according to sociodemographic and clinical characteristics of children up to 36 months with cerebral palsy. Methods: Observational, descriptive, cross-sectional study with retrospective data. 177 medical records of patients with a diagnosis of cerebral palsy from 0 to 36 months were reviewed, treated from January 1, 2015 to December 31, 2016 at a national rehabilitation institute in Lima, Peru. Results: The average age was 25.1 ± 7.16 months, the 58.19% were male, the age group of 25-36 months represented 67.89%, quadriplegic spastic cerebral palsy predominated with 28.25%, 14.12% had alteration in hearing and 19.21% seizures. The average percentage of global psychomotor development was 62.66%; the lowest averages were for gross motor behavior (57.15%), the age group from 0 to 12 months (51.49%), girls (57.72%), spastic cerebral palsy quadriplegia (42.55%), children with hearing and visual impairment (36.92%), with seizures (46.17%) and premature (58.26%). Conclusions: Children up to 36 months with cerebral palsy have a global delay in psychomotor development of approximately 35%, with greater affectation in younger children, girls, those with spastic quadriplegic cerebral palsy, hearing and visual disorders, seizures and are premature.

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Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.

El síndrome de X frágil es causado por la expansión de tripletas CGG en el gen FMR1, el cual genera cambios epigenéticos que silencian su expresión. La ausencia de la proteína codificada por este gen, la FMRP, causa disfunción celular, llevando a deficiencia en el desarrollo cerebral y anormalidades funcionales. Las manifestaciones físicas y neurológicas de la enfermedad aparecen en edades tempranas y pueden sugerir el diagnóstico. Sin embargo, este debe ser confirmado por pruebas moleculares. El síndrome afecta múltiples aspectos de la vida diaria y representa una alta carga para los individuos afectados y para sus familias. El síndrome de C frágil es la causa monogénica más común de discapacidad intelectual y trastornos del espectro autista; por ende, el diagnóstico debe sospecharse en todo paciente con retraso del neurodesarrollo. Intervenciones tempranas podrían mejorar el pronóstico funcional de pacientes con síndrome de X frágil, impactando significativamente su calidad de vida y funcionamiento. Por lo tanto, la atención en salud de niños con síndrome de X frágil debe incluir un abordaje multidisciplinario.

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Introduction: Disability is a generic term that includes deficits, limitations in activity and restrictions in participation indicate the negative aspects of the interaction between an individual and its contextual factors, environmental and personal factors. Objective: The objective of this study was to identify the characteristics of labor inclusion and health-related quality of life of people with disabilities in a population group from the city of Neiva (Colombia). Materials and methods: Descriptive, analytical, cross-sectional study with quantitative approach and non-experimental design, in a sample of 64 people with disabilities. Demographic variables such as age, sex, marital status, education, socioeconomic status, link to the social security system in health, and type of disability were considered. The WHOQOL-BREF, 2004 quality of life scale was applied. Central tendency measures were also calculated with their dispersions and 95% confidence intervals in the continuous quantitative variables. Results: The most frequent disability was physical with 78.13%, followed by visual with 17.18%. The highest percentage of impairment of the quality of life concerning disability is given by the need to move from one place to another, to feel dissatisfaction with their sexual life and the perception of an unhealthy environment. Conclusions: The main factors for the labor inclusion of a person with a disability are subject to sex, the type of disability, access to decent employment, and remuneration according to their potentialities.

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PURPOSE: This study aimed to establish variants in CBX1, encoding heterochromatin protein 1ß (HP1ß), as a cause of a novel syndromic neurodevelopmental disorder. METHODS: Patients with CBX1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. To investigate the pathogenicity of identified variants, we performed in vitro cellular assays and neurobehavioral and cytological analyses of neuronal cells obtained from newly generated Cbx1 mutant mouse lines. RESULTS: In 3 unrelated individuals with developmental delay, hypotonia, and autistic features, we identified heterozygous de novo variants in CBX1. The identified variants were in the chromodomain, the functional domain of HP1ß, which mediates interactions with chromatin. Cbx1 chromodomain mutant mice displayed increased latency-to-peak response, suggesting the possibility of synaptic delay or myelination deficits. Cytological and chromatin immunoprecipitation experiments confirmed the reduction of mutant HP1ß binding to heterochromatin, whereas HP1ß interactome analysis demonstrated that the majority of HP1ß-interacting proteins remained unchanged between the wild-type and mutant HP1ß. CONCLUSION: These collective findings confirm the role of CBX1 in developmental disabilities through the disruption of HP1ß chromatin binding during neurocognitive development. Because HP1ß forms homodimers and heterodimers, mutant HP1ß likely sequesters wild-type HP1ß and other HP1 proteins, exerting dominant-negative effects.

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Introducción: Los potenciales evocados visuales (PEV) evalúan la vía visual mediante pequeñas respuestas neuroeléctricas de la corteza occipital. Constituyen un examen no invasivo para determinar la función visual en prematuros, recién nacidos, lactantes, niños con malformaciones cerebrales enfermedades metabólicas o retraso mental. Objetivo: Describir las características clínicas y los resultados de los Potenciales Evocados Visuales por Flash en niños menores de 5 años en el periodo de diciembre de 2017 a diciembre de 2018. Materiales y Métodos: Diseño observacional, descriptivo, ambispectivo con componente analítico. Los pacientes incluidos niños de 0 a 5 años de edad que se realizaron PEV en el Hospital Pediátrico en el período de diciembre de 2017 a diciembre de 2018. Muestreo no probabilístico de casos consecutivos. Variables principales: Edad, sexo, procedencia, profesional que solicitó el estudio, motivo de solicitud del estudio, datos maternos y perinatales, resultados del PEV. Los datos fueron analizados con SPSSv 21, utilizando estadística descriptiva. Resultados: Se estudiaron 110 pacientes que se realizaron PEV, la mediana de edad fue de 32 meses, predominó el sexo masculino, procedieron del departamento Central (63,6%). La mayoría de los pacientes presentaban Parálisis cerebral infantil (PCI), los neurólogos solicitaron mayormente el estudio. De los antecedentes perinatales, se evidenció que, a menor edad gestacional, menor peso de nacimiento, menor Apgar y antecedente de hospitalización perinatal, los valores de latencia y amplitud para la onda P100 en ambos ojos presentaban alteraciones, siendo esta relación estadísticamente significativa. Conclusión: Aunque en su mayoría los resultados de PEV fueron normales existe una relación importante entre los antecedentes perinatales y la alteración del resultado especialmente con respecto al Apgar a los 1 min mostrando una relación inversa.

Introduction: Visual evoked potentials (VEP) evaluate the visual pathway through small neuroelectric responses from the occipital cortex. They constitute a non-invasive test to determine visual function in premature babies, newborns, infants, children with brain malformations, metabolic diseases or mental retardation. Objective: To describe the clinical characteristics and the results of Flash Visual Evoked Potentials in children under 5 years of age during the time period from December 2017 to December 2018. Materials and Methods: This was an observational, descriptive and ambispective design with an analytical component. The patients included children from 0 to 5 years of age who underwent VEP at the Pediatric Hospital in the period from December 2017 to December 2018. We used non-probabilistic sampling of consecutive cases. Main variables: Age, sex, place of residence, professional who requested the study, reason for requesting the study, maternal and perinatal data, VEP results. Data were analyzed with SPSSv 21, using descriptive statistics. Results: 110 patients who underwent VEP were studied, the median age was 32 months, the male sex predominated, most lived in the Central department (63.6%). Most of the patients had infantile cerebral palsy (ICP), neurologists most frequently requested the study. Using the perinatal history, we determined that a lower gestational age, lower birth weight, lower Apgar score, and a history of perinatal hospitalization were associated with alterations in the latency and amplitude values for the P100 wave in both eyes, this relationship was statistically significant. Conclusion: Although the majority of the VEP results were normal, there is an important relationship between the perinatal history and the alteration of the result, especially with respect to the Apgar at 1 min, which shows an inverse relationship.

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BACKGROUND: Emotional competencies are skills necessary to adequately understand, express, and regulate emotional phenomena. Among the emotional competencies is emotion regulation. Not having adequate development of this emotional competence is related to psychological problems such as depression. One of the characteristics of individuals with developmental disabilities is the presence of difficulties with emotion regulation. These difficulties can affect an individual's autonomy, social competence, and the development of independent life. AIMS: This paper presents a scoping review to identify the technology designed and developed to support the emotion regulation of individuals with developmental disabilities. METHODS AND PROCEDURES: We combined the guidelines for a systematic literature review in computer science and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. The process resulted in twelve stages through which we conducted this scoping review. First, a search query was defined and executed in computer science's five most representative search engines. We used different inclusion, exclusion, and quality criteria for selecting the works included in this review. OUTCOMES AND RESULTS: Thirty-nine papers aimed at supporting the emotional competencies of individuals with developmental disabilities were included, of which nine support emotion regulation. As a result, different areas of opportunity in developing technology to support the emotion regulation of individuals with developmental disabilities are discussed. CONCLUSIONS AND IMPLICATIONS: Technology supporting emotion regulation in individuals with developmental disabilities is a growing but little-explored field. For the literature supporting emotion regulation, we detected opportunities for study. Some of them aimed at investigating whether we could use technologies developed for other emotional competencies to support emotion regulation and how the characteristics of this technology can support individuals with developmental disabilities.

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OBJECTIVE: To assess the association of diabetes and mental, behavioral, and developmental disorders in youth, we examined the magnitude of overlap between these disorders in children and adolescents. STUDY DESIGN: In this cross-sectional study, we calculated prevalence estimates using the 2016-2019 National Survey of Children's Health. Parents reported whether their child was currently diagnosed with diabetes or with any of the following mental, behavioral, or developmental disorders: attention-deficit/hyperactivity disorder, autism spectrum disorder, learning disability, intellectual disability, developmental delay, anxiety, depression, behavioral problems, Tourette syndrome, or speech/language disorder. We present crude prevalence estimates weighted to be representative of the US child population and adjusted prevalence ratios (aPRs) adjusted for age, sex, and race/ethnicity. RESULTS: Among children and adolescents (aged 2-17 years; n = 121 312), prevalence of mental, behavioral, and developmental disorders varied by diabetes status (diabetes: 39.9% [30.2-50.4]; no diabetes: 20.3% [19.8-20.8]). Compared with children and adolescents without diabetes, those with diabetes had a nearly 2-fold higher prevalence of mental, behavioral, and developmental disorders (aPR: 1.72 [1.31-2.27]); mental, emotional, and behavioral disorders (aPR: 1.90 [1.38-2.61]) and developmental, learning, and language disorders (aPR: 1.89 [1.35-2.66]). CONCLUSIONS: These results suggest that approximately 2 in 5 children and adolescents with diabetes have a mental, behavioral, or developmental disorder. Understanding potential causal pathways may ultimately lead to future preventative strategies for mental, behavioral, and developmental disorders and diabetes in children and adolescents.

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ABSTRACT The Alberta infant motor scale (AIMS) is an instrument for assessing the gross motor development of newborns, aged 0-18 months. This study aimed to summarize the Brazilian studies that used the AIMS and identify their objectives to know the main uses of the scale for professionals interested in child motor development. This is a bibliometric study on SciELO, PubMed, Scopus, and Web of Science databases. The searched keywords were "Alberta infant motor scale" and "Brazil," with their equivalents in Portuguese and united by "AND." Inclusion criteria were: use of AIMS with children aged 0-18 months carried out in Brazil. The variables database, journal, year of publication, language, region of the institution linked to the authors, and type of study were analyzed in a descriptive quantitative manner. Content analysis was performed on the objectives described in the articles. In total, 79 articles were included and most of them had a cross-sectional design and were linked to institutions in the South and Southeast regions. Furthermore, most studies were from the last 10 years and in English. The journal Fisioterapia e Pesquisa was the Brazilian journal that most published studies of the sample. The analyzed objectives were distributed into six word classes, with two large groups: psychometric validity (19.1%) and evaluative studies (80.9%). The latter considered the various child populations analyzed. We presented studies that used the AIMS to evaluate the motor development of Brazilian children, reinforcing the importance of this instrument in the national context and also encouraging its use.

RESUMEN La Escala Motora Infantil de Alberta (AIMS) es un instrumento que evalúa el desarrollo motor grueso de los recién nacidos de entre 0 y 18 meses de edad. Este estudio pretendió hacer una síntesis de estudios brasileños que utilizaron la AIMS, así como identificar sus objetivos, con el fin de proporcionar una tabla de los principales usos de la escala a los profesionales interesados en el desarrollo motor infantil. Se trata de un estudio bibliométrico, en el que se realizaron búsquedas en las bases de datos SciELO, PubMed, Scopus y Web of Science. Los descriptores utilizados fueron "escala motora infantil de Alberta" y "Brasil", con sus equivalentes en inglés, unidos por el término booleano "AND". El criterio de inclusión fue la aplicación de la AIMS en Brasil, con niños de entre 0 y 18 meses. Las variables base de datos, revista, año de publicación, idioma, región de la institución vinculada a los autores y tipo de estudio se analizaron de manera cuantitativa y descriptiva. Se realizó un análisis de contenido de los objetivos descritos en los estudios, y se incluyeron 79 estudios, de los cuales la mayoría presentó un diseño transversal y estaba vinculado a instituciones de las regiones Sur y Sudeste de Brasil. La mayoría de las publicaciones son de los últimos 10 años, en inglés, y la revista Fisioterapia e Pesquisa fue la revista nacional que más publicó estudios. Los objetivos analizados se dividieron en seis clases de palabras, que contienen dos grupos principales: validez psicométrica (19,1%) y estudios evaluativos (80,9%). Este último tuvo en cuenta las diversas poblaciones infantiles analizadas. Este estudio presentó las investigaciones que evaluaron la AIMS respecto al desarrollo motor de los niños brasileños. Esto destaca la importancia del citado instrumento en el contexto nacional, además estimula su uso.

RESUMO A Alberta infant motor scale (AIMS) é um instrumento de avaliação do desenvolvimento motor grosso dos recém-nascidos entre 0 e 18 meses de idade. Este estudo buscou sumarizar as pesquisas brasileiras que utilizaram a AIMS e identificar seus objetivos, a fim de fornecer um quadro das principais utilizações da escala aos profissionais interessados no desenvolvimento motor infantil. Trata-se de um estudo bibliométrico realizado por meio de buscas nas bases de dados SciELO, PubMed, Scopus, e Web of Science. Os descritores foram "escala motora infantil de Alberta" e "Brasil", com seus equivalentes em inglês, unidos pelo termo booleano "AND". O critério de inclusão foi a utilização da AIMS no Brasil, com crianças de 0 a 18 meses. As variáveis base de dados, revista, ano de publicação, idioma, região da instituição vinculada aos autores e tipo de estudo foram analisadas de forma quantitativa descritiva. Foi realizada análise de conteúdo dos objetivos descritos nas pesquisas, e foram incluídos 79 estudos, a maioria dos quais apresentou delineamento transversal e estava vinculada a instituições das regiões Sul e Sudeste. Boa parte das publicações era dos últimos 10 anos, em inglês, e a revista Fisioterapia e Pesquisa foi o periódico nacional que mais publicou estudos referentes à amostra. Os objetivos analisados foram distribuídos em seis classes de palavras, contidas em dois grandes grupos: validades psicométricas (19,1%) e estudos avaliativos (80,9%). Este último considerou as várias populações infantis analisadas. O estudo apresentou as pesquisas que utilizaram a AIMS para avaliar o desenvolvimento motor de crianças brasileiras. Isso reforça a importância deste instrumento no contexto nacional, além de estimular sua utilização.

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Resumo Objetivo Examinar a evidência emergente sobre os tipos e a frequência de deficiências do desenvolvimento na população afetada pela COVID-19, identificando formas de categorização, incidência/prevalência e comorbidades mais frequentes. Métodos Para esta revisão de escopo realizou-se busca por estudos observacionais nas bases de dados Medline (PubMed), Scopus (Elsevier), ISI Web of Science (Clarivate), Lilacs (BVS) e 'literatura cinzenta'. Como critérios de elegibilidade, os estudos deveriam apresentar resultados de ocorrência de deficiência de desenvolvimento em pessoas com COVID-19, permitindo comparação com a população em geral, ou entre os grupos de deficiências. Dois revisores independentes fizeram o mapeamento das informações utilizando um instrumento de extração de dados previamente elaborado. Outros dois pesquisadores verificaram os dados e auxiliaram na elaboração dos quadros de apresentação dos resultados. Resultados Observou-se diversidade de terminologias empregadas para categorizar as DD. As pessoas com DD e com comorbidades que representam maior risco para a COVID-19 necessitaram de internação hospitalar com maior frequência do que a população em geral. De um total de 4930 estudos, 14 foram selecionados para avaliação. Destes, 5 artigos foram estudos longitudinais. Conclusão Em pessoas com DD, a COVID-19 apresentou taxas de morbidade, letalidade e mortalidade mais altas em faixas etárias mais jovens, na população mais pobre, na população institucionalizada e que requer tecnologias de suporte de vida e cuidados especializados. A vulnerabilidade das pessoas com DD à COVID-19 depende do tipo e da gravidade da deficiência e da presença de comorbidades, evidenciando a necessidade de atenção no diagnóstico e nas medidas preventivas, como a vacinação.

Resumen Objetivo Examinar la evidencia emergente sobre los tipos y la frecuencia de trastornos en el desarrollo (TD) en la población afectada por COVID-19 e identificar formas de categorización, incidencia/prevalencia y comorbilidades más frecuentes. Métodos Para esta revisión de alcance se realizó una búsqueda de estudios observacionales en las bases de datos Medline (PubMed), Scopus (Elsevier), ISI Web of Science (Clarivate), Lilacs (BVS) y 'literatura gris'. Como criterio de elegibilidad, los estudios debían presentar resultados de casos de TD en personas con COVID-19 y permitir la comparación con la población general, o entre los grupos de trastornos. Dos revisores independientes realizaron el mapeo de la información con la utilización de un instrumento de extracción de datos previamente elaborado. Otros dos investigadores verificaron los datos y ayudaron a elaborar los cuadros de presentación de resultados. Resultados Se observó diversidad en la terminología empleada para categorizar los TD. Las personas con TD y con comorbilidades que representan mayor riesgo de COVID-19 necesitaron internación hospitalaria con mayor frecuencia que la población general. De un total de 4930 estudios, 14 fueron seleccionados para el análisis, de los cuales 5 artículos fueron estudios longitudinales. Conclusión En personas con TD, el COVID-19 presentó índices de morbilidad, letalidad y mortalidad más altos en rangos de edad más jóvenes, en la población más pobre, en la población institucionalizada y que requiere tecnologías de soporte vital y cuidados especializados. La vulnerabilidad de las personas con TD depende del tipo y gravedad del trastorno y de la presencia de comorbilidades, lo que deja en evidencia la necesidad de atención en el diagnóstico y en las medidas preventivas, como la vacunación.

Abstract Objective To examine the emerging evidence on developmental disability type and frequency in the population affected by COVID-19, identifying more frequent forms of categorization, incidence/prevalence and comorbidities. Methods For this scoping review, we searched for observational studies in the MEDLINE (PubMed), Scopus (Elsevier), ISI Web of Science (Clarivate), LILACS (VHL) and grey literature databases. As eligibility criteria, studies should present results of developmental disability (DD) occurrence in people with COVID-19, allowing comparison with the general population, or between groups of disabilities. Two independent reviewers mapped the information using a previously elaborated data extraction instrument. Two other researchers verified the data and assisted in table elaboration to present the results. Results There was a diversity of terminologies used to categorize DD. People with DD and comorbidities that represent a higher risk for COVID-19 required hospitalization more frequently than the general population. Out of a total of 4930 studies, 14 were selected for assessment. Of these, 5 articles were longitudinal studies. Conclusion In people with DD, COVID-19 had higher morbidity, lethality and mortality rates in younger age groups, in the poorest population, in the institutionalized population, requiring life support technologies and specialized care. The vulnerability of people with DD to COVID-19 depends on disease type and severity and the presence of comorbidities, highlighting the need for attention in diagnosis and preventive measures, such as vaccination.