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1.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 41: e2021165, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1406953

ABSTRACT

Abstract Objective: To perform a longitudinal investigation of risk factors in premature infants' cognitive, motor, and language development. Methods: Thirty-three preterm infants were assessed at 4, 8, and 12 months of corrected age, using the Bayley-III Scales. Parents completed questionnaires regarding development opportunities at home, parenting practices and knowledge. Results: Significant associations were found (1) at 4-months between cognitive scores and family income, variety of stimuli, availability of toys, parenting practices and knowledge; language and parenting practices; and motor skills and parenting practices; (2) at 8-months between cognitive score and length of stay in the Neonatal Intensive Care Unit (NICU), gestational age, birth weight, toys, and parenting knowledge; language and toys; and motor skills and toys and parenting knowledge; (3) at 12-months between cognitive scores and length of stay in the NICU, family income, breastfeeding, toys, and parenting knowledge; language and income and toys; and motor scores and length of stay in the NICU, gestational age, income, stimuli, toys, and parenting knowledge. Regression analyses indicated that: for (1) cognitive development, stimulus variety explained 72% of the model variance at 4 months of age; time at the NICU explained 67 and 43% at 8 and 12 months of age, respectively, and breastfeeding time explained 41% of the model variance at 12 months; (2) for language development, family income explained 42% of the model variance at 12 months; and for motor development (3), time at the NICU explained 80% of the model variance at 12 months. Conclusions: The development over the first year of life is not explained by the severity of birth conditions and associated morbidities only, but also by parenting practices.


RESUMO Objetivo: Investigar longitudinalmente os fatores de risco no desenvolvimento cognitivo, motor e de linguagem de prematuros. Métodos: Participaram 33 crianças prematuras avaliadas aos quatro, oito e 12 meses de idade corrigida, com as escalas Bayley III. Os pais completaram questionários referentes às oportunidades do lar, práticas e conhecimento parentais. Resultados: Associações significantes foram encontradas: (1) aos quatro meses, entre os escores cognitivos e renda familiar, variedade de estímulos, disponibilidade de brinquedos, práticas e conhecimento parental; e linguagem e motor com conhecimento parental; (2) aos oito meses, entre os escores cognitivos e tempo de Unidade de Terapia Intensiva (UTI), idade gestacional, peso ao nascer, brinquedos e conhecimento parental; linguagem e brinquedos; e motor e brinquedos e conhecimento parental; (3) aos 12 meses, entre os escores cognitivos com o tempo de UTI, renda, meses de amamentação, brinquedos e conhecimento parental; linguagem e renda e brinquedos; e motor e idade gestacional, tempo de UTI, renda, estimulação, brinquedos e conhecimento parental. Análises de regressão indicaram que: para o desenvolvimento (1) cognitivo, a variedade de estímulos explicou 72% da variância do modelo aos quatro meses; o tempo de UTI explicou 67 e 43% aos oito e 12 meses respectivamente, e o tempo de amamentação explicou 41% da variância do modelo aos 12 meses; (2) para o desenvolvimento da linguagem, a renda familiar explicou 42% da variância do modelo aos 12 meses; e para o desenvolvimento (3) motor, o tempo de UTI explicou 80% da variância do modelo aos 12 meses. Conclusões: O desenvolvimento no primeiro ano de vida não é explicado apenas pela gravidade ao nascer e pelas morbidades clínicas associadas, mas também pelas práticas parentais.

2.
Arq. bras. oftalmol ; 85(1): 85-87, Jan.-Feb. 2022. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1350090

ABSTRACT

ABSTRACT This is a case report of a 2-year-old male patient with cognitive delay, facial abnormalities, and microcornea in the right eye, who was referred for ophthalmological investigation. The initial ophthalmological examination revealed hypertelorism, epicanthus, nystagmus, esotropia, and microcornea in the right eye. The examination under anesthesia revealed microphthalmia in the right eye, and iris, retina, and optic nerve coloboma in both eyes. Whole exome sequencing revealed evidence of a heterozygotic pathogenic variant in PACS1. The PACS1 pathogenic variant in association with the clinical findings confirmed the diagnosis of Schuurs-Hoeijmakers syndrome. To our knowledge, this is the first report to describe microcornea and microphthalmia as additional ocular manifestations of Schuurs-Hoeijmakers syndrome.


RESUMO Trata-se de um relato de caso de um paciente do sexo masculino de 2 anos de idade com atraso cognitivo, anormalidades faciais e microcórnea no olho direito encaminhado para investigação oftalmológica. O exame oftalmológico inicial evidenciou hipertelorismo, epicanto, nistagmo, esotropia e microcórnea no olho direito. O exame sob anestesia revelou microftalmia no olho direito e coloboma de íris, retina e nervo óptico em ambos os olhos. Foi realizado sequenciamento completo do exoma que mostrou uma variante patogênica heterozigótica no PACS1. A variante patogênica no PACS1 em associação com os achados clínicos apresentados confirmou o diagnóstico da síndrome de Schuurs-Hoeijmakers). Acredita-se este seja o estudo a descrever microcórnea e microftalmia como manifestações oculares adicionais da síndrome de Schuurs-Hoeijmakers.

3.
Ribeirão Preto; s.n; 2022. 222 p. ilus, tab.
Thesis in Portuguese | LILACS, BDENF | ID: biblio-1532062

ABSTRACT

Introdução: A prematuridade é a principal causa de morte em recém-nascidos, sendo um problema de saúde global. Os avanços tecnológicos na saúde contribuem para o aumento da sobrevida de bebês cada vez mais imaturos e, associado a este avanço há um aumento de dependência de tecnologias permanentes ou temporárias por estes bebês para auxílio da sobrevida ou qualidade de vida. Visto isso, sabe-se da importância da presença precoce dos pais nas unidades neonatais e da educação destes para os posteriores cuidados domiciliares de seus filhos pautados no conhecimento e garantia de assertividade. Objetivo: Validar o conteúdo e a aparência de um aplicativo móvel para a família sobre o cuidado do bebê pré-termo com necessidades especiais e dependente de tecnologia. Método: Trata-se de um estudo metodológico, aplicado, que segue os preceitos do método do Design Instrucional Construtivista e aprendizagem significativa de Ausubel para a validação de conteúdo e aparência do aplicativo móvel por profissionais enfermeiros experts na temática e tecnologia educacional, bem como, o próprio usuário final, que avaliou de forma dinâmica, os cuidados aos dispositivos como colostomia, gastrostomia, sonda enteral, cateter de oxigênio e traqueostomia. Para isso, implementou-se ao aplicativo móvel Baby Care Tech multimeios e textos organizados em 145 telas que abordam os cuidados diários como manutenção, higiene e monitorização, até sinais de alerta e possíveis problemas que o bebê possa apresentar. A coleta de dados ocorreu no período de maio a junho de 2021 e participaram 25 profissionais e seis usuários finais preenchendo o instrumento do Mobile Learning Evaluation (Mo-LEva) com 59 questões para profissionais e utilizou-se o instrumento avaliativo The Suitability Assessment of Material (SAM) com 17 questões para a família. Resultados: Deu-se a validação de conteúdo e aparência já na primeira rodada de avaliação pelos profissionais com as 59 (100%) questões avaliadas com nota acima de 80 e IVC ≥ 0,80 e junto ao usuário final avaliação ótima em 15 (88,2%) itens avaliados e avaliação adequada para dois (11,8%) quesitos avaliados. Conclusão: O aplicativo móvel apresenta-se validado em seu conteúdo e aparência e assim, tem potencial para auxiliar profissionais de saúde nas atividades de educação em saúde junto à clientela acerca da temática, bem como, famílias de bebê prematuros dependentes de tecnologia, com linguagem adequada e multimeios que podem potencializar sua aprendizagem e autonomia no cuidado adequado pós-alta da criança


Introduction: Prematurity is the main cause of death in newborns, being a global health problem. Technological advances in health contribute to the increase in the survival of increasingly immature babies and, associated with this advance, there is an increase in dependence on permanent or temporary technologies by these babies to aid survival or quality of life. In view of this, it is known the importance of the early presence of parents in neonatal units and their education for later home care for their children. Objective: To validate the content and appearance of a mobile application for the family about the care of the preterm baby with special needs and technology dependent. Method: This is a methodological, applied study that follows the precepts of the Constructi-view Instructional Design method and Ausubel's significant learning for the validation of content and appearance of the mobile application by professional nurses who are experts in the subject and educational technology, as well as the end user himself, who dynamically evaluated the care of devices such as colostomy, gastrostomy, enteral tube, oxygen catheter and tracheostomy. For this, the Baby Care Tech mobile application was implemented with multimedia and texts organized in 145 screens that address daily care such as maintenance, hygiene and monitoring, even warning signs and possible problems that the baby may present. Data collection took place from May to June 2021, and 25 professionals and six end users participated by filling out the Mobile Learning Evaluation (MoLEva) instrument with 59 questions for professionals and using the evaluative instrument The Suitability Assessment of Material (SAM) with 17 questions for the family. Results: Validation of content and appearance took place in the first round of evaluation by professionals with 59 (100%) questions evaluated with a score above 80 and CVI ≥ 0.80 and with the end user an excellent evaluation in 15 (88,2%) evaluated items and adequate evaluation for two (11.8%) evaluated items. Conclusion: The mobile application is validated in its content and appearance and thus has the potential to assist health professionals in health education activities with the clientele on the subject, as well as families of premature babies pending technology, with adequate language and multimedia that can enhance their learning and autonomy in the proper post-discharge care of the child


Subject(s)
Humans , Infant, Premature , Neonatal Nursing , Educational Technology , Mobile Applications
4.
Rev. bras. educ. espec ; 28: e0135, 2022. tab
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1365602

ABSTRACT

RESUMO: No atual contexto português, é ainda visível a generalizada dificuldade em obter instrumentos de avaliação adaptados à população com Dificuldades Intelectuais e Desenvolvimentais (DID) que avaliem o constructo da autodeterminação. Nesse sentido, este artigo tem por objetivo a adaptação e a validação da Arc's Self-Determination Scale à população adolescente e adulta portuguesa com DID. Para esse efeito, foram seguidas as recomendações internacionais inerentes a processos dessa natureza, culminando em uma avaliação de 11 peritos para a evidência quantitativa da validade de conteúdo. Todos os itens dessa escala foram considerados como relevantes ou muito relevantes (n=72), tendo-se obtido acordos moderados (k>.40) e excelentes (k>.75) entre os peritos no cálculo do Kappa de Cohen. A amostra foi constituída por 500 indivíduos adolescentes e adultos entre 16 e 70 anos de idade (24.03±9.15), sendo 256 do género feminino e 244 do género masculino com e sem DID. A escala apresentou uma excelente consistência interna (α=.89), com tendência para correlações fracas a moderadas (.01>r<.51). Os procedimentos inerentes à validade de constructo são, igualmente, apresentados e discutidos. Os principais resultados parecem apontar a ideia de que o instrumento em estudo apresenta as características de validade e de fiabilidade necessárias para que possa ser utilizado em nível nacional.


ABSTRACT: In the current Portuguese context, the generalized difficulty in obtaining assessment instruments adapted to the population with Intellectual and Developmental Difficulties (IDD) that evaluate the construct of self-determination is still visible. In this sense, this paper aims to adapt and validate the Arc's Self-Determination Scale to the Portuguese adolescent and adult population with IDD. To this end, it was considered the international guidelines in cross-cultural adaptation process, culminating with an evaluation of 11 experts for the quantitative evidence of the content validity. All items of this scale were considered as relevant or very relevant (n=72) and there was a moderated (k>.40) and an excellent agreement (k>.75) among the experts in the calculation of Cohen's Kappa. The sample comprised 500 adolescents/adults, aged between 16 and 70 years-old (24.03±9.15), 256 females and 244 males with and without IDD. The scale showed an excellent internal consistency (α=.89) and weak to moderate correlations between sections (.01>r<.51). The procedures inherent to the validity of construct are also presented and discussed. The main results seem to point out the idea that the instrument under study presents the characteristics of validity and reliability required so that it can be used at the national level.

5.
Article | IMSEAR | ID: sea-204187

ABSTRACT

Background: Morbidity resulting from various neurological illnesses is a common reason for seeking regular help from health care facilities. There is increased requirement of awareness about neurological, psychiatric, physical, and developmental disorders in the community. Present study was undertaken to assess the community awareness and perception of risk factors for neurodevelopmental disabilities in children.Methods: The study was conducted with an objective of finding out level of awareness of a group of young health professionals and parents regarding their perception of likely factors that contribute for the occurrence of neurodevelopmental disabilities. This was a cross sectional study with discussion between the participants of various groups by using the method of Focused Group Discussions. Perceived risk factors as emerged during the discussions were free-listed and categorized under Biological/Familial/Genetic factors, Environmental factors, Socio-cultural factors and Economic/ Financial factors.Results: Lack of prenatal care, prematurity, unaffordability of care, low birth weight, malnutrition, infections and lack of maternal education emerged as important risk factors for neuromorbidity as perceived by the participants. Participants also enumerated insufficient knowledge on preventable risk factors, lack of trained manpower and neglect of female children as important contributors to occurrence of developmental disabilities.Conclusions: It is of paramount importance to identify the community perception of the risk factors for developmental disability which gives us an estimate of awareness among people and caregivers. Interventions tailored to the needs based on the level of community awareness help us in better channelling of preventive programmes and strategies.

6.
Korean Journal of Preventive Medicine ; : 200-204, 2019.
Article in English | WPRIM | ID: wpr-766131

ABSTRACT

On September 12, 2018, President Jae-In Moon announced the Comprehensive Plan for Lifelong Care for People with Developmental Disabilities, with representatives from the associated government branches (Ministry of Health and Welfare, Ministry of Education, and Ministry of Employment and Labor) in attendance. The goals of this plan are to provide health, medical, rehabilitative, special education, and social welfare services according to the life-stages of the affected individuals; to reduce parental pressure; to promote social interventions; and to enhance community-level participation in order to create a ‘welfare society in harmony.’ However, in order for the plan to succeed, additional efforts must be made in the following areas. First, an epidemiological survey is needed to understand the scale, prevalence, and incidence of developmental disabilities and to establish an evidence base to support policy development. Second, accurate definitions of developmental disabilities must be established in order to avoid policy discrimination based on impairment type and age. Third, personal evaluations to assess disabled individuals' unmet needs and customized service designs to deliver those needs are required. Fourth, the plan must fulfill the goals of accessibility and fairness that the government intends to provide. Fifth, the government should consider an integrated financial support system and to propose a detailed plan for monetary distributions. Finally, an integrated system that links health, medical, employment, educational, and welfare services must be constructed.


Subject(s)
Humans , Comprehensive Health Care , Developmental Disabilities , Discrimination, Psychological , Education , Education, Special , Employment , Financial Support , Incidence , Intellectual Disability , Moon , Parents , Policy Making , Prevalence , Social Welfare
7.
Ter. psicol ; 35(3): 231-238, Dec. 2017. tab, graf
Article in Spanish | LILACS | ID: biblio-904196

ABSTRACT

El objetivo de esta investigación fue examinar la confiabilidad y validez de la Escala Integral de Calidad de Vida para población con discapacidad intelectual y del desarrollo, en población chilena. Este es uno de los principales instrumentos empleados para evaluar la calidad de vida en esta población desde una doble perspectiva objetiva, completada por los profesionales a cargo, y subjetiva administrada a los propios sujetos. Para ello, han participado 751 estudiantes y 82 profesionales. Los principales resultados demuestran que existe una adecuada fiabilidad del instrumento en población chilena y la estructura factorial es totalmente congruente con la versión española. Los resultados confirman que la Escala Integral es un instrumento válido y con una óptima fiabilidad en población chilena para evaluar la calidad de vida de personas con discapacidad intelectual y del desarrollo.


This paper aims to evaluate the reliability and validity of the Integral Quality of Life Scale in people with intellectual and developmental disability in the Chilean people. That is a principal instrument to evaluate the quality of life in this collective from subjective and objective vision. For this, 751 students have participated and 82 professionals. The main results show that there is adequate instrument reliability and factorial Chilean population structure is fully consistent with the Spanish version. The results confirm that the Integral Scale is a valid and optimum reliability instrument in Chilean population to assess the quality of life for people with intellectual and developmental disabilities.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Psychometrics/methods , Quality of Life/psychology , Developmental Disabilities/psychology , Surveys and Questionnaires , Intellectual Disability/psychology , Chile , Reproducibility of Results , Factor Analysis, Statistical
8.
J. pediatr. (Rio J.) ; 93(1): 17-27, Jan.-Feb. 2017. graf
Article in English | LILACS | ID: biblio-841319

ABSTRACT

Abstract: Objective: This study aims to identify the scientific evidence on the risks and effects of exposure to environmental contaminants in children during sensitive developmental periods. Data source: The search was performed in the Bireme database, using the terms: children's health, environmental exposure, health vulnerability, toxicity pathways and developmental disabilities in the LILACS, MEDLINE and SciELO systems. Data synthesis: Children differ from adults in their unique physiological and behavioral characteristics and the potential exposure to risks caused by several threats in the environment. Exposure to toxic agents is analyzed through toxicokinetic processes in the several systems and organs during the sensitive phases of child development. The caused effects are reflected in the increased prevalence of congenital malformations, diarrhea, asthma, cancer, endocrine and neurological disorders, among others, with negative impacts throughout adult life. Conclusion: To identify the causes and understand the mechanisms involved in the genesis of these diseases is a challenge for science, as there is still a lack of knowledge on children's susceptibility to many environmental contaminants. Prevention policies and more research on child environmental health, improving the recording and surveillance of environmental risks to children's health, should be an ongoing priority in the public health field.


Resumo: Objetivo: O presente estudo busca identificar as evidências científicas sobre os riscos e efeitos da exposição de contaminantes ambientais no organismo infantil durante os períodos sensíveis de seu desenvolvimento. Fonte de dados: As pesquisas foram feitas pelo banco de dados da Bireme, com os termos children's health, environmental exposure, health vulnerability, toxicity pathways e developmental disabilities nos sistemas Lilacs, Medline e SciELO. Síntese de dados: A criança difere do adulto por suas características singulares de ordem fisiológica, comportamental e do potencial de exposição a riscos frente às ameaças do ambiente. A exposição a agentes tóxicos é analisada por meio dos processos toxicocinéticos nos sistemas e órgãos durante as janelas sensíveis do desenvolvimento infantil. Os efeitos causados transparecem no aumento da prevalência de malformações congênitas, diarreia, asma, cânceres, distúrbios endócrinos e neurológicos, entre outros, com impactos negativos ao longo da vida adulta. Conclusão: Identificar as causas e compreender os mecanismos envolvidos na gênese desses agravos é um desafio que se impõe à ciência, visto que ainda há uma lacuna de conhecimento sobre a suscetibilidade infantil para muitos contaminantes ambientais. Políticas de prevenção e mais pesquisas em saúde ambiental infantil, que impulsionem o registro e a vigilância epidemiológica dos riscos ambientais à saúde da criança, devem ser uma prioridade contínua no campo da saúde pública.


Subject(s)
Humans , Child , Developmental Disabilities/etiology , Environmental Exposure/adverse effects , Environmental Pollutants/toxicity , Developmental Disabilities/classification , Developmental Disabilities/physiopathology , Child Welfare , Health Knowledge, Attitudes, Practice , Environmental Health
9.
Pensam. psicol ; 12(1): 11-21, jun. 2014. ilus
Article in Spanish | LILACS, COLNAL | ID: lil-715254

ABSTRACT

Objetivo. Los efectos de la encefalopatía hipóxica isquémica en los recién nacidos pueden reflejarse en el deficiente desarrollo de patrones motores elementales que son el origen de la psicomotricidad. En este estudio se tuvo como objetivo establecer la efectividad de un procedimiento de evaluación e intervención, que precisara el tipo de desorganización motora asociada a este padecimiento. Método. Se evaluaron 15 niños con hipoxia, utilizando la Escala de evaluación del desarrollo cinesiológico de Vojta y la Escala de estimación del desarrollo psicomotor de Hellbrügge, con los que se pudieron identificar tres tipos de desorganización motora: patrón motor de tipo hipotónico/hipoquinético, patrón motor hiperexcitable y patrón motor rígido. Se elaboró un programa de corrección basado en los principios de estimulación vestibular y propioceptiva para activar posturas y posiciones humanas específicas y reducir la expresividad de los tipos identificados. Resultados. Después de ocho meses de tratamiento se identificaron cambios en la organización motriz como resultado de la aplicación del programa de corrección (t(15) = 8.37, p < 0.000). Discusión. Se discute la importancia del diseño de estrategias de intervención temprana para disminuir la manifestación de alguna discapacidad que en el futuro pudiera manifestarse.


Objective. Hypoxic encephalopathy effects in newborn children can be reflected in the inappropriate development of motor patterns that are the cornerstone of psychomotor activity. The main objective of this study was to systematize an assessment-intervention procedure in order to detect different types of motor. Method. 15 children were evaluated using Vojta and Hellbrügge scales. Three types of motor deviation were identified: hypotonic/hypokinetic motor pattern, hyperexcitable motor pattern and rigid motor pattern. A program for correction was subsequently drawn up, based on the principles of vestibular and proprioceptive stimulation to activate specific human postures and positions and reduce the identified motor deviations. Results. After 8 months of the treatment significant changes were detected in the organization of, after the application of the motor program (t(15) = 8.37, p <0.0001). Discussion. These results showed the necessity of the precise design of intervention procedures at an early age for the prevention of the occurrence of any disability.


Escopo. Os efeitos da encefalopatia hipóxico isquêmica nos recém nascidos podem se reflexar no deficiente desenvolvimento de patrões motores elementares que sÃo o origem da psicomotricidade. Em este estudo o escopo foi estabelecer a efetividade de um procedimento de avaliaçÃo e intervençÃo, que precisara o tipo de desorganizaçÃo motora associada a este padecimento. Metodologia. Foram avaliadas 15 crianças usando a Escada de avaliaçÃo do desenvolvimento cinesiolôgico de Vojta e Escada de estimaçÃo do desenvolvimento psicomotor de Hellbrugge, com os que se pode identificar três tipos de desorganizaçÃo motora: patrÃo motor de tipo hipotônico/hipoquinético, patrÃo motor hiperexcitável e patrÃo motor rígido. Depois foi feito um programa de correçÃo baseado nos princípios de estimulaçÃo vestibular e proprioceptiva para ativar as posturas e posiciones humanas específicas e reduzir os tipos de dificuldades motoras identificadas. Resultados. Depois de 8 meses de tratamento foram identificadas mudanças na organizaçÃo motora das como resultado da aplicaçÃo do programa de correçÃo (t(15) = 8.367, p < 0.0001). DiscussÃo. Foi discutida a importância do desenho de estratégias de intervençÃo precoce para diminuir a manifestaçÃo de qualquer possível incapacidade que no futuro possa se manifestar.


Subject(s)
Humans , Brain Diseases , Proprioception , Vestibule, Labyrinth
10.
The Singapore Family Physician ; : 50-54, 2014.
Article in English | WPRIM | ID: wpr-634009

ABSTRACT

Children with developmental disabilities may need extra care due to delayed development of self-care skills and/or a need for special care. Delayed self-care skills mean that care needs that are expected to diminish in typically developing children, persist. Whether a child is independent in an aspect of self-care would be dependent on his chronological and developmental age, developmental disability and the associated impairments, as well as cultural and other environmental factors, such as the child’s gender, the presence of a domestic helper, early attendance at preschool. Family circumstances should also be taken into consideration. The functional assessment of ADL in infants and children with developmental disabilities has been distilled into the domains of Washing/Bathing, Dressing, Feeding, Toileting, Transferring and Mobility. They reflect the activities that occur in the typical day in the life of a child. Common developmental disabilities and possible effects on acquisition of independent ADL are discussed.

11.
Korean Journal of Perinatology ; : 95-99, 2014.
Article in Korean | WPRIM | ID: wpr-101634

ABSTRACT

The 1q terminal deletion syndrome is a rare chromosomal disorder which was first reported by Mankinen et al. in 1976. This disorder has shown to have broad and diverse clinical phenotypes. Specific phenotypes of 1q terminal deletion syndrome include microcephaly, seizures, psychomotor retardation, growth retardation, abnormalities of extremities, corpus callosum, heart and genitalia. Although this disorder has diverse clinical manifestations, almost all cases of 1q44 deletion syndrome have growth, psychomotor, and mental retardation and progressive microcephaly. The first diagnosis of 1q44 deletion syndrome in Korea was made by fluorescent in situ hybridization analysis in a 4-month-old girl with craniofacial anomalies, multiple congenital anomalies, and growth and psychomotor retardation. We report the second domestic case of 1q44 deletion syndrome with cleft palate, facial dysmorphism, single umbilical artery, foot abnormality, progressive microcephaly, growth and psychomotor retardation which was confirmed by microarray for comparative genomic hybridization. We also compare this case with previously reported cases of 1q44 deletion syndrome.


Subject(s)
Female , Humans , Infant , Chromosome Disorders , Chromosomes, Human, Pair 1 , Cleft Palate , Comparative Genomic Hybridization , Corpus Callosum , Developmental Disabilities , Diagnosis , Extremities , Foot , Genitalia , Heart , In Situ Hybridization, Fluorescence , Intellectual Disability , Korea , Microcephaly , Oligonucleotide Array Sequence Analysis , Phenotype , Seizures , Single Umbilical Artery
12.
Journal of the Korean Ophthalmological Society ; : 261-266, 2014.
Article in Korean | WPRIM | ID: wpr-90227

ABSTRACT

PURPOSE: To evaluate ocular abnormalities in children with developmental disability and to find out whether any correlation exists between developmental disability and surgical outcome. METHODS: Totally 43 patients with the diagnosis of developmental disability were enrolled in this retrospective study. RESULTS: Mean follow-up was 4.54 +/- 2.35 year. 20 patients had exodeviation, 15 patients had esodeviation, 10 patients had dissociated vertical deviation and 4 patients had dyskinetic strabismus. 21 patients had surgery and the mean deviation angle was decreased from 36.67 +/- 15.70 PD to 5.33 +/- 5.93 PD in exotropia and 56.25 +/- 8.54 PD to 5.75 +/- 4.65 PD in esotropia. Refractive error was found in 33 patients (88.4%). 26 patients (60.5%) had monocular amblyopia and 17 patients (65.38%) showed improvement of visual acuity after treatment. CONCLUSIONS: Exotropia is the most common type strabismus in patients with developmental disability and dyskinetic strabismus is found in cerebral palsy. Strabismus Surgery for patients with stable angle deviation and amblyopia treatment is effective in children with developmental disability. However decision for surgery should be made after a long follow up period.


Subject(s)
Child , Humans , Amblyopia , Cerebral Palsy , Developmental Disabilities , Diagnosis , Esotropia , Exotropia , Follow-Up Studies , Refractive Errors , Retrospective Studies , Strabismus , Visual Acuity
13.
Arch. Clin. Psychiatry (Impr.) ; 40(3): 97-104, 2013. tab
Article in English | LILACS | ID: lil-678430

ABSTRACT

CONTEXTO: A violência sexual é um grave problema de saúde pública que preocupa e confronta nossa sociedade. A prevalência, a magnitude e as consequências desse problema têm merecido atenção crescente por parte de estudiosos e pesquisadores da saúde e dos direitos humanos. OBJETIVO: Realizar uma revisão bibliográfica sobre a relação entre crimes sexuais e transtornos mentais e do desenvolvimento. MÉTODOS: Foi realizada uma pesquisa bibliográfica nas bases de dados do PubMed, Scientific Eletronic Library Online (SciELO) e Lilacs, utilizando os descritores "sexual crime", "sexual offense", "mental disorder", "mental retardation", "developmental disability" e suas combinações. RESULTADOS: Os transtornos mentais e do desenvolvimento mais frequentemente relacionados à perpetração de crimes sexuais foram esquizofrenia, transtorno bipolar e retardo mental. CONCLUSÃO: São importantes a detecção e o tratamento da morbidade psiquiátrica entre ofensores sexuais nos sistemas de saúde e de justiça criminal, o que pode contribuir para menor risco de reincidência desse comportamento sexual.


BACKGROUND: Sexual violence is a serious public health problem that concerns and faces our society. The prevalence, magnitude and consequences of this problem have merited growing attention by health researchers and human rights scholars. OBJECTIVE: To conduct a review of the literature regarding the relationship between mental disorders, sexual offences and those of development. METHODS: A bibliographic research was performed in PubMed, Scientific Electronic Library Online (SciELO) and Lilacs, employing the terms "sexual crime", "sexual offence", "mental disorder", "mental retardation", "developmental disability" and its combinations. RESULTS: The mental disorders and developmental disorders more frequently related to the perpetration of sexual offences were schizophrenia, bipolar disorder and mental retardation. DISCUSSION: The detection and treatment of psychiatric morbidity among sexual offenders in health and criminal justice systems, which may contribute to a lower risk of recidivism of this sexual behaviour, is important.


Subject(s)
Sexual Harassment , Sexual Behavior , Intellectual Disability , Schizophrenia , Risk Factors , Review Literature as Topic , Bipolar Disorder , Mental Disorders , Disorders of Sex Development
14.
The Singapore Family Physician ; : 16-20, 2012.
Article in English | WPRIM | ID: wpr-633901

ABSTRACT

Children with developmental disabilities may need extra care due to delayed development of self-care skills and/or a need for special care. Delayed self-care skills mean that care needs that are expected to diminish in typically developing children, persist. Whether a child is independent in an aspect of self-care would be dependent on his chronological and developmental age, developmental disability and the associated impairments, as well as cultural and other environmental factors, such as the child’s gender, the presence of a domestic helper, early attendance at preschool. Family circumstances should also be taken into consideration. The functional assessment of ADL in infants and children with developmental disabilities has been distilled into the domains of Washing/Bathing, Dressing, Feeding, Toileting, Transferring and Mobility. They reflect the activities that occur in the typical day in the life of a child. Common developmental disabilities and possible effects on acquisition of independent ADL are discussed.

15.
Journal of the Korean Medical Association ; : 244-261, 2009.
Article in Korean | WPRIM | ID: wpr-77749

ABSTRACT

Despite the relatively high prevalence (5~10%) of developmental disability, the early identification for such problems remains difficult. Doctors who care children with developmental delay tried to find out these disorders as early as possible in order to apply an early intervention and reduce the long-term disabilities among them. Identification of a delayed young child by routine out-patient's clinic mandates a careful search for an underlying etiology. This article discusses the available approaches for the infants and young children with various kinds of developmental disabilities, according to the parent's chief complaints including 'unable to walk', 'unable to speak', 'unable to control temper', and 'unable to contact his or her eyes'.


Subject(s)
Child , Humans , Infant , Cerebral Palsy , Developmental Disabilities , Early Intervention, Educational , Language Development Disorders , Mental Disorders , Prevalence
16.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 414-415, 2008.
Article in Chinese | WPRIM | ID: wpr-965756

ABSTRACT

@#Early intervention plays a very important role in social adaption and learning of the children who are at risk.It has been moved to a more empirical direction,that is to say,there has been a substantial movement toward developing and implementing evidence-based services in the early intervention field.We introduce 3 concrete evidence-based programs targeting children who are at risk.Moreover,we will consider two issues in early intervention.

17.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 989-991, 2008.
Article in Chinese | WPRIM | ID: wpr-972199

ABSTRACT

@# Objective To investigate the rehabilitation conditions of the developmental disabled children.Methods 269 developmental disabled children were involved.Among them,237 children were with mental retarded disability,57 with physical disability and 26 with psychological disability.Questionnaire was used to estimate their condition and affecting factors.Results The prevalence of non-rehabilitation in mental retarded children was 71.31%,in physical developmental disabled children was 33.93%,and in psychological developmental disabled children was 42.31%.The rehabilitation measures focused on training and medical service,rarely on psychological service.The rehabilitation's affecting factors included singleton(P<0.01),maternal age(P<0.01),parental educational degree(P<0.05) and parental understanding of the rehabilitation(P<0.001).Conclusion The factors affecting rehabilitation are complicated,and what we should do now is to subside the poor family,propagandize the rehabilitation knowledge to the children's parents.

18.
The Korean Journal of Physiology and Pharmacology ; : 113-119, 2007.
Article in English | WPRIM | ID: wpr-728479

ABSTRACT

Developmental disability shows life-long behavioral abnormality with no significant physical malformation. This study was undertaken to develop an animal model for developmental disability by using two-factor approach. Lipopolysaccharide (LPS), a bacterial toxin, and NAN-190, a 5-HT1A receptor antagonist, were administered to Sprague-Dawley rats on postnatal day (PND) 5 to induce inflammation and an altered 5-HT system, respectively. Long-term alteration of behavior occurred in the drug-treated groups. The LPS-treated group showed impaired motor coordination in the Rota-rod test. The LPS- treated or both LPS and NAN-190-treated groups showed impaired fore-paw muscle power in the wire maneuver test. These groups also showed decreased white matter volume and increased serotonergic fibers. The LPS and NAN-190-treated group also exhibited neurologic deficit in the placing reaction test and impaired equilibrium function in the tilt table test. The results showed that a variety of altered behaviors can be generated by two factor model, and suggested that combination of important etiologic factors and possible underlying defects is a promising strategy of establishing an animal model for developmental disabilities.


Subject(s)
Animals , Developmental Disabilities , Inflammation , Models, Animal , Neurologic Manifestations , Rats, Sprague-Dawley , Receptor, Serotonin, 5-HT1A , Serotonin , Tilt-Table Test
19.
Korean Journal of Pediatrics ; : 1031-1036, 2006.
Article in Korean | WPRIM | ID: wpr-188023

ABSTRACT

In this article, the following topics will be discussed: What is a developmental disability? What are the risk factors for developmental disability? What are the causes of delayed motor development? What are the early manifestations of developmental disability in young infants? What are the goals of early intervention and the forms or types of early intervention services? What are the dynamis of families with a developmentally delayed child? What is the role of a pediatrician for a developmentally disabled child and his or her family?


Subject(s)
Child , Humans , Infant , Developmental Disabilities , Disabled Children , Early Intervention, Educational , Risk Factors
20.
Journal of the Korean Academy of Rehabilitation Medicine ; : 177-180, 2005.
Article in Korean | WPRIM | ID: wpr-723368

ABSTRACT

OBJECTIVE: To investigate neurodevelopmental long-term outcome in children born after in-vitro fertilization (IVF). METHOD: We performed retrospective study in which we investigated development of neurodevelopmental disability in 254 childern (113 twins, 28 singletons) born after in vitro fertilization between Janurary 1995 and December 1999. We obtained neurodevelopmental status on a certain date and disability of children from medical records or phone interviews of parents. We assessed developmental status, congenital malformation, cerebral palsy and seizure, speech disorder, other neurologic problems, prematurity, low birth weight, maternal age, intraventricular hemorrhage (IVH), retinopathy and congenital anomaly. RESULTS: Six children (2.3%) were diagnosed as cerebral palsy, three children (1.2%) as developmental delay and 11 had IVH, 6 had retinopathy, 10 had congenital anomaly (esp. abdominal wall defect). The mean maternal age was 30+/-2.8 years old and gestational age was 35+/-3.0 weeks. One hundred one children (39.7%) were born prematurely, 66.5% low birth weight. CONCLUSION: High prevalence of neurodevelopmental disabilities like cerebral palsy compared to population controls (cerebral palsy: 1.9/1000 live birth) was revealed. Therefore, we should know mild high risk of developmental disability and do developmental examination carefully in children born after IVF and long-term follow up.


Subject(s)
Child , Humans , Infant, Newborn , Abdominal Wall , Cerebral Palsy , Developmental Disabilities , Fertilization , Fertilization in Vitro , Follow-Up Studies , Gestational Age , Hemorrhage , Infant, Low Birth Weight , Maternal Age , Medical Records , Paralysis , Parents , Population Control , Prevalence , Retrospective Studies , Seizures , Twins
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