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1.
Siglo cero (Madr.) ; 54(4): 85-120, oct.-dic. 2024. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-EMG-560

RESUMO

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)


The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Pessoas com Deficiência , Espanha
2.
Siglo cero (Madr.) ; 54(4): 85-120, oct.-dic. 2024. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-229230

RESUMO

La metodología de Planificación Centrada en la Persona (PCP) cada vez tiene mayor impacto en España. Comenzando desde las distintas legislaciones que regulan la atención a este colectivo en las diferentes autonomías y terminando en los centros que proveen este servicio. No obstante, existe escasa literatura internacional de estudios empíricos a grandes escalas que sitúen este enfoque metodológico en una posición relevante que garantice la eficacia de la PCP. El objetivo principal de este estudio es conocer el estado del uso de la metodología de PCP a través de estudios avalados empíricamente que sostengan tanto beneficios como limitaciones durante los últimos 10 años (2012-2022). Para ello, se ha realizado una revisión sistemática desde las directrices de PRISMA (2020), que incluye un total de 31 artículos. Como conclusión, se han descubierto más beneficios que limitaciones entre las que destacan las ventajas en su uso para las personas con discapacidad intelectual y del desarrollo y las mejoras de aspectos relacionados con la autodeterminación. No obstante, las limitaciones prevalecen por la falta de apoyos y recursos adecuados de las organizaciones para responder a una planificación centrada en la persona y la necesidad de formación de las personas implicadas en la elaboración de la PCP, lo que genera la incógnita de si se están realizando buenas prácticas en el uso de dicha metodología. (AU)


The methodology of Person Centered Planning (PCP) is having an increasing impact in Spain. Starting from the different legislations that regulate the attention to this group in the different autonomous regions and ending in the centers that provide this service. However, there is little international literature on large-scale empirical studies that place this methodological approach in a relevant position to guarantee the efficacy of PCP. The main objective of this study is to know the status of the use of PCP methodology through empirically supported studies that sustain both benefits and limitations during the last 10 years (2012-2022). For this purpose, a systematic review has been conducted since the PRISMA guidelines (2020), including a total of 31 articles. As a conclusion, more benefits than limitations have been found, among which the advantages in its use for people with intellectual and developmental disabilities and improvements in aspects related to self-determination stand out. However, limitations prevail due to the lack of adequate support and resources from organizations to respond to person-centered planning and the need for training of the people involved in the development of the PCP, which raises the question of whether good practices are being carried out in the use of this methodology. (AU)


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Pessoas com Deficiência , Espanha
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(7): 830-834, 2024 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-38946367

RESUMO

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay and epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c.115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+PM3_Supporting+PP3_Moderate+PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product. CONCLUSION: The homozygous c.115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.


Assuntos
Deficiências do Desenvolvimento , Epilepsia , Homozigoto , Humanos , Feminino , Lactente , Epilepsia/genética , Deficiências do Desenvolvimento/genética , Mutação , Proteínas de Transporte da Membrana Mitocondrial/genética , Sequenciamento do Exoma
4.
Prog Community Health Partnersh ; 18(2): 259-265, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38946570

RESUMO

BACKGROUND: People with intellectual and developmental disabilities (IDD) are at high risk for unmet health care needs and face barriers to equitable care, yet few health professions students receive adequate training to meet these needs. OBJECTIVES: An interactive panel discussion with Special Olympics Pennsylvania (SOPA) athletes and staff was planned and implemented so that health professions students/trainees would gain knowledge of IDD, health barriers, SOPA resources, and volunteer opportunities. METHODS: Panelists included two SOPA athletes and their mentors; questions solicited responses about personal health care experiences (Fall 2019). Attendees completed a mixed-methods post-event survey capturing event satisfaction, reflections, and interest in learning more about patients with IDD. RESULTS: Sixty individuals attended, and 43 (72%) completed post-event evaluation. Attendees reported high satisfaction (88%), desire for future trainings (100%), and interest in learning about communicating (88%), providing care (88%), and addressing IDD health barriers (91%). CONCLUSIONS: Collaborative community panels could be effective in engaging health care students in discussion about caring for patients with IDD.


Assuntos
Pessoas com Deficiência , Humanos , Feminino , Masculino , Pennsylvania , Deficiências do Desenvolvimento/terapia , Pesquisa Participativa Baseada na Comunidade , Deficiência Intelectual , Adulto
5.
Commun Biol ; 7(1): 831, 2024 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-38977784

RESUMO

Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendrite, and synapse formation. We report eleven individuals from seven families harboring predicted pathogenic biallelic, de novo, and heterozygous variants in the NAV3 gene, which encodes the microtubule positive tip protein neuron navigator 3 (NAV3). All affected individuals have intellectual disability (ID), microcephaly, skeletal deformities, ocular anomalies, and behavioral issues. In mouse brain, Nav3 is expressed throughout the nervous system, with more prominent signatures in postmitotic, excitatory, inhibiting, and sensory neurons. When overexpressed in HEK293T and COS7 cells, pathogenic variants impaired NAV3 ability to stabilize microtubules. Further, knocking-down nav3 in zebrafish led to severe morphological defects, microcephaly, impaired neuronal growth, and behavioral impairment, which were rescued with co-injection of WT NAV3 mRNA and not by transcripts encoding the pathogenic variants. Our findings establish the role of NAV3 in neurodevelopmental disorders, and reveal its involvement in neuronal morphogenesis, and neuromuscular responses.


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Microcefalia , Humanos , Microcefalia/genética , Microcefalia/patologia , Deficiência Intelectual/genética , Animais , Masculino , Feminino , Camundongos , Deficiências do Desenvolvimento/genética , Células HEK293 , Peixe-Zebra/genética , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Pré-Escolar , Chlorocebus aethiops , Células COS , Criança , Neurônios/metabolismo , Neurônios/patologia , Proteínas Associadas aos Microtúbulos/genética , Proteínas Associadas aos Microtúbulos/metabolismo
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(7): 817-820, 2024 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-38946364

RESUMO

OBJECTIVE: To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy. METHODS: A child who was admitted to the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c.3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3). CONCLUSION: The c.3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.


Assuntos
Epilepsia , Deficiência Intelectual , Fenótipo , Humanos , Feminino , Epilepsia/genética , Lactente , Deficiência Intelectual/genética , Sequenciamento do Exoma , Deficiências do Desenvolvimento/genética , Testes Genéticos , Mutação de Sentido Incorreto
7.
Am J Case Rep ; 25: e943641, 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38995884

RESUMO

BACKGROUND Neurodevelopmental disorders (NDD) are umbrella disorders that encompass global developmental delay (GDD), intellectual disability, autism spectrum disorders, motor developmental disorders, and sleep disorders. Both GDD and autism spectrum disorder are common and yet clinically and genetically heterogeneous disorders. Despite their high prevalence and the advent of sequencing detection methods, the genomic etiology of GDD and autism spectrum disorder in most patients is largely unknown. CASE REPORT In this study, we describe a 6-year-old girl with GDD, autistic features, and structural brain abnormalities, including a moderate reduction in periventricular white matter and bilateral optic nerve hypoplasia, Chiari malformation type I with normal myelinization. A comprehensive joint whole-genome analysis (WGS) of the proband and her unaffected parents was performed. The trio-WGS analysis identified novel de novo nonsense variants AGO3: c.1324C>T (p.Gln442*) and KHSRP: c.1573C>T (p.Gln525*). These variants have not been reported in gnomAD and published literature. AGO3 and KHSRP are not currently associated with a known phenotype in the Online Mendelian Inheritance in Man (OMIM); however, they may be involved in neuronal development. CONCLUSIONS This report highlights the utility of joint WGS analysis in identifying novel de novo genomic alterations in a patient with the spectrum of phenotypes of GDD and neurodevelopmental disorders. The role of these variants and genes in GDD requires further studies.


Assuntos
Transtorno do Espectro Autista , Deficiências do Desenvolvimento , Humanos , Feminino , Criança , Transtorno do Espectro Autista/genética , Deficiências do Desenvolvimento/genética , Códon sem Sentido , Sequenciamento Completo do Genoma
8.
J Neurodev Disord ; 16(1): 38, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39010007

RESUMO

BACKGROUND: Research indicates that preterm infants requiring prolonged mechanical ventilation often exhibit suboptimal neurodevelopment at follow-up, coupled with altered brain development as detected by magnetic resonance imaging (MRI) at term-equivalent age (TEA). However, specific regions of brain dysmaturation and the subsequent neurodevelopmental phenotype following early-life adverse respiratory exposures remain unclear. Additionally, it is uncertain whether brain dysmaturation mediates neurodevelopmental outcomes after respiratory adversity. This study aims to investigate the relationship between early-life adverse respiratory exposures, brain dysmaturation at TEA, and the developmental phenotype observed during follow-up in extremely preterm infants. METHODS: 89 infants born < 29 weeks' gestation from 2019 to 2021 received MRI examinations at TEA for structural and lobe brain volumes, which were adjusted with sex-and-postmenstrual-age expected volumes for volume residuals. Assisted ventilation patterns in the first 8 postnatal weeks were analyzed using kmlShape analyses. Patterns for motor, cognition, and language development were evaluated from corrected age 6 to 12 months using Bayley Scales of Infant Development, third edition. Mediation effects of brain volumes between early-life respiratory exposures and neurodevelopmental phenotypes were adjusted for sex, gestational age, maternal education, and severe brain injury. RESULTS: Two distinct respiratory trajectories with varying severity were identified: improving (n = 35, 39%) and delayed improvement (n = 54, 61%). Compared with the improving group, the delayed improvement group exhibited selectively reduced brain volume residuals in the parietal lobe (mean - 4.9 cm3, 95% confidence interval - 9.4 to - 0.3) at TEA and lower motor composite scores (- 8.7, - 14.2 to - 3.1) at corrected age 12 months. The association between delayed respiratory improvement and inferior motor performance (total effect - 8.7, - 14.8 to - 3.3) was partially mediated through reduced parietal lobe volume (natural indirect effect - 1.8, - 4.9 to - 0.01), suggesting a mediating effect of 20%. CONCLUSIONS: Early-life adverse respiratory exposure is specifically linked to the parietal lobe dysmaturation and neurodevelopmental phenotype of motor delay at follow-up. Dysmaturation of the parietal lobe serves as a mediator in the connection between respiratory adversity and compromised motor development. Optimizing respiratory critical care may emerge as a potential avenue to mitigate the consequences of altered brain growth and motor developmental delay in this extremely preterm population.


Assuntos
Lactente Extremamente Prematuro , Imageamento por Ressonância Magnética , Lobo Parietal , Humanos , Lactente Extremamente Prematuro/fisiologia , Feminino , Masculino , Recém-Nascido , Lactente , Lobo Parietal/diagnóstico por imagem , Lobo Parietal/crescimento & desenvolvimento , Lobo Parietal/fisiopatologia , Fenótipo , Respiração Artificial , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/fisiopatologia , Desenvolvimento Infantil/fisiologia
9.
Semin Pediatr Neurol ; 50: 101142, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38964813

RESUMO

Abusive head trauma (AHT) is associated with high mortality and poorer outcomes compared to accidental head injuries. The short and long-term developmental outcomes for AHT are not well identified. Variability in outcome measures, small sample sizes, difficulty in measuring domain-specific developmental skills, co-existence of comorbidities, genetic and environmental factors and high attrition rates all contribute to the challenges on providing data in this area. The objective of this article is to review the scientific literature on the developmental outcomes of AHT, highlighting factors that affect outcomes, the available assessment tools, and short and long-term developmental outcomes, recommended follow up, societal costs, and future opportunities for research. Authors searched OVID Medline and PubMed for articles published between 2013 and 2023 using the terms "abuse", "craniocerebral trauma" and "development". Fifty-five records were included for this review. The data shows that injuries sustained from AHT result in a spectrum of outcomes ranging from normal development to death. There are more than 100 outcome assessment tools limiting the ability to compare studies. More than half of patients are left with disabilities post discharge. Gross motor and cognition/academics are the 2 most common domains studied. Advancement in surgical and neurocritical care management has influenced AHT outcomes. Close long-term follow up is recommended to maximize each child's developmental potential, irrespective of the presence of disability at discharge. We suggest that future research should focus on adopting a consistent diagnostic and assessment approach and explore the social environmental factors that can affect recovery.


Assuntos
Maus-Tratos Infantis , Traumatismos Craniocerebrais , Deficiências do Desenvolvimento , Humanos , Deficiências do Desenvolvimento/etiologia , Lactente , Criança , Desenvolvimento Infantil/fisiologia , Pré-Escolar , Avaliação de Resultados em Cuidados de Saúde
10.
J Appl Res Intellect Disabil ; 37(5): e13272, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38966968

RESUMO

BACKGROUND: Tailored sexuality education for adolescents with intellectual and developmental disabilities is a crucial, yet unmet, need as this population is particularly at risk for sexual abuse and victimisation. However, there are no evidence-based interventions to specifically address this need. This paper presents the development of an intervention framework to address equity in sexuality education and support adolescents with intellectual and developmental disabilities to understand and provide sexual consent, a foundational aspect of sexuality education and sexual health. METHODS: The Sexual Health Equity Project team used a Community-Based Participatory Research approach to develop a four-module sexual consent intervention for adolescents with intellectual and developmental disabilities. We leveraged a diverse, interdisciplinary team in a suburban Midwestern school district, and used Backward Design to create objectives and assessments which were rooted in findings from qualitative data by special education teachers. RESULTS: The resulting sexual consent intervention, Ask Me First-Choices, is comprised of four modules covering topics including definition of sexual consent; decision-making strategies and practice; communicating consent and refusal, identifying situations of consent and non-consent; and legal issues surrounding consent. Each module is divided into five components for content delivery: (1) introduction, (2) lecture, (3) supplemental activity, (4) assessment, and (5) conclusion. We detail the intervention's unique aspects, emphasising areas where we used Universal Design for Learning principles to support teachers' instruction and students' learning. CONCLUSION: Our efforts to create a sexual consent intervention directly address sexuality education equity issues. We offer commentary on our design process and decisions, as well as recommendations for future groups who want to develop sexual health interventions in similar contexts for students with intellectual and developmental disabilities. Next steps include further testing and validation of the sexual consent intervention to build the evidence-base of sexuality education for adolescents with intellectual and developmental disabilities.


Assuntos
Pesquisa Participativa Baseada na Comunidade , Deficiências do Desenvolvimento , Deficiência Intelectual , Educação Sexual , Humanos , Adolescente , Deficiência Intelectual/reabilitação , Deficiências do Desenvolvimento/reabilitação , Feminino , Masculino , Comportamento Sexual
11.
BMC Med Genomics ; 17(1): 175, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38956616

RESUMO

This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental delay and intellectual disability. The male patient, aged 4, began experiencing epileptic seizures at 3 months post-birth and has shown developmental delay. Rehabilitation training was administered between the ages of one and two. There were no other significant family medical histories. Through comprehensive family exome genetic testing, a hemizygous variant in the 11th exon of the OPHN1 gene was identified in the affected child: c.1025 + 1G > A. Family segregation analysis confirmed the presence of this variant in the patient's mother, which had not been previously reported. According to the ACMG guidelines, this variant was classified as a likely pathogenic variant. In response to this variant, an in vitro minigene functional experiment was designed and conducted, confirming that the mutation affects the normal splicing of the gene's mRNA, resulting in a 56 bp retention on the left side of Intron 11. It was confirmed that OPHN1: c.1025 + 1G > A is the pathogenic cause of X-linked intellectual disabilities in the child, with clinical phenotypes including developmental delay and seizures.


Assuntos
Deficiência Intelectual , Proteínas Nucleares , Splicing de RNA , Humanos , Masculino , Pré-Escolar , Deficiência Intelectual/genética , Proteínas Nucleares/genética , Proteínas do Citoesqueleto/genética , Proteínas Ativadoras de GTPase/genética , Deficiências do Desenvolvimento/genética , Linhagem , Mutação , Sequenciamento do Exoma
12.
Front Public Health ; 12: 1376742, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38962778

RESUMO

Introduction: Developmental Delay (DD) is highly common in American Indian and Alaska Native (AI/AN; Indigenous) toddlers and leads to high numbers of AI/AN children who eventually need special education services. AI/AN children are 2.89 times more likely to receive special education compared to other children in the U.S., yet developmental disorders are more frequently under diagnosed and untreated in AI/AN infants and toddlers. DD, which can be identified as early as toddlerhood, can lead to negative impacts on developmental trajectories, school readiness, and long-term health. Signs of DD can be identified early with proper developmental screening and remediated with high quality early intervention that includes effective parent training. There are many evidence-based language facilitation interventions often used in Early Intervention programs. However, in communities in rural parts of the Navajo Nation where there are limited services and resources, infants and toddlers with early signs of DD are often missed and do not get the culturally responsive support and evidence-based intervention they deserve. Methods: The community-based +Language is Medicine (+LiM) study team partnered with tribal home visitors, community members, and a Diné linguist/elder using a collaborative virtual workgroup approach in 2021 and 2022 to present the +LiM pilot study aims and to discuss strategies for enhancing a language intervention for toddlers experiencing DD in their tribal community. This paper will detail the stages of community engagement, intervention enhancement and preparation for field testing of the +LiM intervention to address elevated rates of DD in toddlers in the Northern Agency of the Navajo Nation. Results: Two major outcomes from this collaborative workgroup included: (1) a team-initiated redefining of language nutrition to align with Indigenous values that center cultural connectedness and native language use and (2) a five-lesson caregiver-facilitated curriculum titled +Language is Medicine which includes caregiver lessons on language nutrition, language facilitation, shared book reading, pretend play, and incorporation of native language into home routines. These two workgroup outcomes were leveraged to develop a pilot pre-/post-intervention study to test the effectiveness of the +LiM intervention with caregiver-toddler dyads living on the Navajo Nation. Discussion: Delivering tailored child interventions through tribal home visiting are cost-effective and innovative methods for reaching reservation-based families who benefit from culturally responsive parent coaching and instruction. The +LiM team has applied a precision tribal home visiting approach to enhance methods of early intervention for children with DD. Our enhancement process was grounded in Indigenous community-based participatory research that centered culture and language.


Assuntos
Cuidadores , Deficiências do Desenvolvimento , Humanos , Pré-Escolar , Lactente , Cuidadores/educação , Feminino , Indígenas Norte-Americanos , Masculino , Projetos Piloto , Idioma , Nativos do Alasca , Intervenção Educacional Precoce
13.
JAMA Netw Open ; 7(7): e2420382, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38967923

RESUMO

Importance: Preeclampsia has direct influences on a developing fetus and may impact postnatal health, and fetal growth restriction (FGR) is often seen co-occurring with preeclampsia. The development of children born very preterm after preeclampsia diagnosis with and without FGR is not well characterized. Objective: To examine the associations of preeclampsia and FGR with developmental and/or behavioral outcomes in a cohort of very preterm infants. Design, Setting, and Participants: In this cohort study, infants in the prospective Neonatal Neurobehavior and Outcomes in Very Preterm Infants study were enrolled between April 2014 and June 2016 from 9 US university-affiliated neonatal intensive care units (NICUs). Eligible infants were born before 30 weeks' gestation. Infants were excluded for any major congenital anomalies and for maternal age younger than 18 years or cognitive impairment impacting the ability to provide informed consent. Data analysis was performed from November 2023 to January 2024. Exposure: Maternal preeclampsia and FGR in very preterm infants. Main Outcomes and Measures: The Bayley-III cognition, motor, and language scores less than 85 (-1 SD) indicated developmental delay. Child Behavior Checklist/Preschool 1.5-5 T-scores greater than or equal to 64 for internalizing, externalizing, or total problems indicated clinical importance. Results: Of 704 infants enrolled, 529 (mean [SD] gestational age, 27.0 [1.9] weeks; 287 male [54.3%]) were studied at 24-month follow-up. A total of 94 infants' mothers had preeclampsia (23.2%), and 46 infants (8.7%) had FGR. In adjusted models, preeclampsia was not associated with Bayley-III (cognitive, B = 3.43 [95% CI, -0.19 to 6.66]; language, B = 3.92 [95% CI, 0.44 to 7.39]; motor, B = 1.86 [95% CI, -1.74 to 5.47]) or Child Behavior Checklist/Preschool 1.5-5 (internalizing, B = -0.08 [95% CI, -2.58 to 2.73]; externalizing, B = 0.69 [95% CI, -1.76 to 3.15]; total, B = 0.21 [95% CI, -2.48 to 2.91]) outcomes. FGR was associated with significantly lower Bayley-III scores (cognitive, B = -8.61 [95% CI, -13.33 to -3.89]; language, B = -8.29 [95% CI, -12.95 to -3.63]; motor, B = -7.60 [95% CI, -12.40 to -2.66]), regardless of preeclampsia status. Conclusions and Relevance: In this cohort study of preterm infants, preeclampsia was not associated with developmental and/or behavioral outcomes, but infants with FGR may be prone to developmental delays. These findings suggest future areas of research for understanding the roles of preeclampsia and FGR separately and together in early child development for preterm infants.


Assuntos
Retardo do Crescimento Fetal , Pré-Eclâmpsia , Humanos , Feminino , Pré-Eclâmpsia/epidemiologia , Gravidez , Retardo do Crescimento Fetal/epidemiologia , Masculino , Recém-Nascido , Estudos Prospectivos , Adulto , Desenvolvimento Infantil/fisiologia , Pré-Escolar , Lactente Extremamente Prematuro , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/etiologia , Lactente , Recém-Nascido Prematuro , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Estudos de Coortes
14.
Geneva; UNICEF; 2024-06.
em Inglês | WHO IRIS | ID: who-376982

RESUMO

This publication was developed by the United Nations Children’s Fund (UNICEF) Regional Officefor Europe and Central Asia and the World Health Organization (WHO) Regional Office for Europe. It aims to support policy makers, professionals, advocates and academics in introducing developmental monitoring as a part of routine child health services at the primary health care level. The publication provides guidance for professionals on the essentials of developmental monitoring, based on the available literature and findings regarding the currentstatus of developmental monitoring in the region.


Assuntos
Atenção Primária à Saúde , Serviços de Saúde da Criança , Crianças com Deficiência , Deficiências do Desenvolvimento
15.
Genes (Basel) ; 15(6)2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38927744

RESUMO

While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this study, we present the case of a boy exhibiting developmental delay and mild intellectual disability. Initial karyotyping revealed a translocation t(5;6)(q13;q23) between chromosomes 5 and 6 with limited resolution. Optical genome mapping (OGM) enabled a more precise depiction of the breakpoint regions involved in the reciprocal translocation. While the breakpoint region on chromosome 6 did not encompass any known gene, OGM revealed the disruption of the RASGRF2 (Ras protein-specific guanine nucleotide releasing factor 2) gene on chromosome 5, implicating RASGRF2 as a potential candidate gene contributing to the observed developmental delay in the patient. Variations in RASGRF2 have so far not been reported in developmental delay, but research on the RASGRF2 gene underscores its significance in various aspects of neurodevelopment, including synaptic plasticity, signaling pathways, and behavioral responses. This study highlights the utility of OGM in identifying breakpoint regions, providing possible insights into the understanding of neurodevelopmental disorders. It also helps affected individuals in gaining more knowledge about potential causes of their conditions.


Assuntos
Deficiências do Desenvolvimento , Translocação Genética , Humanos , Masculino , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/patologia , Fatores ras de Troca de Nucleotídeo Guanina/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 5/genética , Deficiência Intelectual/genética , Deficiência Intelectual/patologia
16.
Epidemiology ; 35(4): 527-541, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38912713

RESUMO

BACKGROUND: Maternal folic acid intake has been associated with decreased risk for neurodevelopmental disorders including autism spectrum disorder (ASD). Genetic differences in folate metabolism could explain some inconsistencies. To our knowledge, newborn folate concentrations remain unexamined. METHODS: We measured folate in archived newborn dried blood spots of children from the CHARGE (Childhood Autism Risks from Genetics and the Environment) case-control study who were clinically confirmed at 24-60 months to have ASD (n = 380), developmental delay (n = 128), or typical development (n = 247). We quantified monthly folic acid intake from maternally-reported supplements and cereals consumed during pregnancy and 3 months prior. We assessed associations of newborn folate with maternal folic acid intake and with ASD or developmental delay using regression. We stratified estimates across maternal and child MTHFR genotypes. RESULTS: Among typically developing children, maternal folic acid intake in prepregnancy and each pregnancy month and prepregnancy prenatal vitamin intake were positively associated with newborn folate. Among children with ASD, prenatal vitamin intake in pregnancy months 2-9 was positively associated with newborn folate. Among children with developmental delay, maternal folic acid and prenatal vitamins during the first pregnancy month were positively associated with neonatal folate. Associations differed by MTHFR genotype. Overall, neonatal folate was not associated with ASD or developmental delay, though we observed associations with ASD in children with the MTHFR 677 TT genotype (odds ratio: 1.76, 95% CI = 1.19, 2.62; P for interaction = 0.08). CONCLUSION: Maternal prenatal folic acid intake was associated with neonatal folate at different times across neurodevelopmental groups. Neonatal folate was not associated with reduced ASD risk. MTHFR genotypes modulated these relationships.


Assuntos
Transtorno do Espectro Autista , Deficiências do Desenvolvimento , Ácido Fólico , Metilenotetra-Hidrofolato Redutase (NADPH2) , Autorrelato , Humanos , Ácido Fólico/sangue , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/sangue , Feminino , Estudos de Casos e Controles , Recém-Nascido , Masculino , Gravidez , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pré-Escolar , Teste em Amostras de Sangue Seco , Adulto , Suplementos Nutricionais , Genótipo
17.
J Nutr Educ Behav ; 56(6): 399-405, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38849192

RESUMO

OBJECTIVE: To describe the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) staff experiences, perceptions, and training needs surrounding the provision of infant feeding support for parents with intellectual and developmental disabilities (IDD). METHODS: We conducted in-depth semistructured interviews between October and November 2021 with Maryland WIC staff (N = 10) who provide infant feeding counseling and support. We analyzed interviews using conventional content analysis. RESULTS: Three themes were identified: identifying and documenting IDD, facilitating effective communication and infant feeding education, and assessing WIC staff competence and readiness. CONCLUSIONS AND IMPLICATIONS: The interviews suggested the need to explore the risks and benefits of routine and compassionate processes for identifying and documenting disability, create accessible teaching materials that facilitate understanding and engagement, and educate and train staff to provide tailored support in WIC. Engaging parents with IDD to better understand their perspectives and experiences should guide future efforts to improve inclusivity and accessibility.


Assuntos
Deficiências do Desenvolvimento , Assistência Alimentar , Deficiência Intelectual , Humanos , Feminino , Gravidez , Lactente , Adulto , Maryland , Pais/psicologia , Recém-Nascido , Masculino
18.
BMC Med Genomics ; 17(1): 158, 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38862963

RESUMO

BACKGROUND AND AIMS: To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. MATERIALS AND METHODS: This retrospective study evaluated the findings in 13 Chinese patients with SSADH deficiency admitted to the Pediatric Department of Peking University First Hospital from September 2013 to September 2023. RESULTS: Thirteen patients (seven male and six female patients; two sibling sisters) had the symptoms aged from 1 month to 1 year. Their urine 4-hydroxybutyrate acid levels were elevated and were accompanied by mildly increased serum lactate levels. Brain magnetic resonance imaging (MRI) showed symmetric abnormal signals in both sides of the globus pallidus and other areas. All 13 patients had psychomotor retardation, with seven showing epileptic seizures. Among the 18 variants of the ALDH5A1 gene identified in these 13 patients, six were previously reported, while 12 were novel variants. Among the 12 novel variants, three (c.85_116del, c.206_222dup, c.762C > G) were pathogenic variants; five (c.427delA, c.515G > A, c.637C > T, c.755G > T, c.1274T > C) were likely pathogenic; and the remaining four (c.454G > C, c.479C > T, c.1480G > A, c.1501G > C) were variants of uncertain significance. The patients received drugs such as L-carnitine, vigabatrin, and taurine, along with symptomatic treatment. Their urine 4-hydroxybutyric acid levels showed variable degrees of reduction. CONCLUSIONS: A cohort of 13 cases with early-onset SSADH deficiency was analyzed. Onset of symptoms occurred from 1 month to 1 year of age. Twelve novel variants of the ALDH5A1 gene were identified.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Succinato-Semialdeído Desidrogenase , Humanos , Succinato-Semialdeído Desidrogenase/deficiência , Succinato-Semialdeído Desidrogenase/genética , Feminino , Masculino , Erros Inatos do Metabolismo dos Aminoácidos/genética , Lactente , Estudos Retrospectivos , Povo Asiático/genética , Mutação , China , Pré-Escolar , Deficiências do Desenvolvimento/genética , Imageamento por Ressonância Magnética , População do Leste Asiático
19.
J Appl Res Intellect Disabil ; 37(4): e13264, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38863161

RESUMO

BACKGROUND: Providing menstrual education and guidance for menstrual management for girls and young women with intellectual disabilities is recommended to ensure smooth pubertal transitions and to support menstrual self-agency. METHOD: The purpose of this systematic review is to explore menstrual education interventions for girls and young women with intellectual disabilities. RESULTS: Nine studies were included. Interventions were provided in small groups (n = 4) and individually (n = 5). Most studies used dolls (n = 7) and task analysis (n = 7) to teach pad-replacement skills. All reported significant improvements in participant skills and/or knowledge following the intervention. Only one study addressed self-agency and self-esteem as an outcome of the intervention. Menstrual education for girls and young women with intellectual disabilities is largely focused on pad-replacement skills. CONCLUSION: Further research is needed to understand the impact of menstrual health and hygiene education on variables apart from skill improvement such as self-agency and long-term health outcomes related to menstrual health.


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Menstruação , Adolescente , Adulto , Criança , Feminino , Humanos , Adulto Jovem , Deficiências do Desenvolvimento/reabilitação , Educação em Saúde/métodos , Conhecimentos, Atitudes e Prática em Saúde , Deficiência Intelectual/reabilitação , Educação Sexual/métodos
20.
BMC Pediatr ; 24(1): 380, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38824506

RESUMO

BACKGROUND: The survival rate of children with biliary atresia (BA) after liver transplantation (LT) is significantly improved, and their quality of life has attracted much attention.This study aimed to investigate the cognition and its influencing factors in children with BA after primary living donor LT (BA-pLDLT) during infancy. METHODS: Children with BA were recruited 6 months after pLDLT at Children's Hospital of Chongqing Medical University (2018-2022). Demographic and clinical data were collected from the health information system. Cognition was assessed using the Chinese version of the Griffiths Mental Development scale (GMDS-C). Multivariate linear regression were used to analyze the influencing factors of their cognitive function. RESULTS: In total, 57 children with BA-pLDLT, aged 5.00(3.90-9.30) months at transplantation and 25.00(14.00-60.80) months at evaluation were included. The general developmental quotient (89.02 ± 12.07) and motor, language, eye-hand coordination, performance, and practical reasoning quotients of these children were significantly lower than the normative mean values of GMDS-C(P < 0.05). Of the 57 children, 16 (28.07%) had borderline developmental delay (DQ between 70 and 84), 3 (5.26%) had developmental delay (DQ < 70), and 11(19.29%) had language delay. Reoperation for biliary or vascular complications after pLDLT was a risk factor for decreased general development quotient and motor quotient and lower ZW at assessment was associated with decline motor quotient. CONCLUSION: Children with BA-pLDLT have varying degrees of developmental delays in early life. Reoperation and nutritional deficiencies had adverse effects on cognitive development.


Assuntos
Atresia Biliar , Cognição , Transplante de Fígado , Doadores Vivos , Humanos , Atresia Biliar/cirurgia , Transplante de Fígado/efeitos adversos , Masculino , Feminino , Lactente , Pré-Escolar , Deficiências do Desenvolvimento/etiologia
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