RESUMO
BACKGROUND AND OBJECTIVE: Primary disabilities in children prenatally exposed to alcohol have a major impact on their daily life. It is suggested that these issues persist into adulthood, but few studies have addressed the outcome in adults with prenatal exposure, especially those with fetal alcohol syndrome (FAS). The aim of this follow-up study was to investigate outcome variables, such as education, employment, health, and criminal acts, in 79 adults diagnosed with FAS. METHODS: We carried out a national register-based study of 79 adults with an FAS diagnosis, at a mean age of 32. Education, social adjustment, and mental health outcomes were analyzed and compared with 3160 comparison individuals matched on age, gender, and place of birth. RESULTS: The FAS group was much more likely to have received special education (25% vs 2%), be unemployed (51% vs 15%), and receive a disability pension (31% vs 3%) than the comparisons, but the levels of criminal offenses were similar. The FAS group had higher hospital admission rates for alcohol abuse (9% vs 2%) and psychiatric disorders (33% vs 5%) and was more likely to be prescribed psychotropic drugs (57% vs 27%). CONCLUSIONS: Swedish children with FAS have quite diverse psychosocial outcomes in adulthood, considerably worse than for majority population peers. Potential risk and protective factors within the FAS group deserve study to enable development of effective interventions.
Assuntos
Transtornos do Espectro Alcoólico Fetal/psicologia , Adulto , Escolaridade , Feminino , Seguimentos , Humanos , Masculino , Transtornos Mentais/epidemiologia , Transtornos Mentais/etiologia , Gravidez , Fatores SocioeconômicosRESUMO
BACKGROUND: The objective was to investigate the frequency of fetal alcohol spectrum disorders (FASD) and ophthalmologic anomalies in orphanage children in Brazil. METHODS: A prospective study was performed on 94 children living in an orphanage in Brazil. The children were examined by a multidisciplinary team consisting of specialists in pediatrics, neurology, psychology, neuropsychiatry, and ophthalmology. RESULTS: The main reasons for living in the orphanage, in 61% of the children, were negligence, child abuse, and abandonment. Of all the children studied, 50% had mothers with known alcohol abuse and 47% had one or more diagnoses of neurodevelopmental/behavioral and/or cognitive deficits. General developmental delay was found in 18%, intellectual disability in 3%, cognitive impairment in 27%, attention-deficit/hyperactivity disorder in 14%, and autism in 3%. Altogether 17% had FASD, comprising three children with fetal alcohol syndrome (FAS), six with partial FAS, and seven with alcohol-related neurodevelopmental disorder. 16% had ophthalmological findings such as poor vision, strabismus, and dysmorphology of the optic nerves. Twenty-eight children (30%) were adopted from the orphanage; of these, six had FASD (two FAS, three partial FAS, one alcohol-related neurodevelopmental disorder), five had attention-deficit/hyperactivity disorder, and eight had developmental delay. CONCLUSION: Nearly half of the children living in the orphanage had neurodevelopmental disorders and a considerable number showed signs of damage from prenatal alcohol exposure. A broader look at the problem of FASD in Brazil and other South American countries is desirable to document the burden of disease and provide data for targeting prevention efforts.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Anormalidades do Olho/epidemiologia , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Doenças do Nervo Óptico/epidemiologia , Orfanatos , Adolescente , Brasil , Criança , Pré-Escolar , Feminino , Humanos , Lactente , MasculinoRESUMO
PURPOSE OF REVIEW: The thalidomide tragedy of the early 1960s resulted in a great number of studies and reports involving many specialties of medicine. Because of the estimated large number of affected children (5000+) worldwide exposed to this potent teratogen, and the many informative cases in which the exposure time was known, a teratogenic timetable was constructed relating affected structures to the time of exposure. This demonstrated that thalidomide had a teratogenic effect between approximately 20 to 36 days after fertilization. RECENT FINDINGS: We found that Duane syndrome and its variants were prominent in individuals who were exposed to thalidomide early in the sensitive period (days 20 to 26±). Other anomalies associated with this early effect were aberrant tearing, facial nerve palsy, ear malformations, and autism. Structural eye malformations were less frequent in this early phase, appearing slightly later in the sensitive period. SUMMARY: This study summarizes the ophthalmologic findings from a number of studies and compares them with respect to the implications of time of exposure. Because the timing of anomalies such as external ear and limb malformations are well established in the thalidomide literature, correlation with associated eye anomalies gives insight into the approximate timing of the causative teratogen exposure.
Assuntos
Anormalidades Induzidas por Medicamentos/patologia , Síndrome da Retração Ocular/induzido quimicamente , Anormalidades do Olho/induzido quimicamente , Síndrome de Möbius/induzido quimicamente , Teratogênicos , Talidomida/efeitos adversos , Anormalidades Induzidas por Medicamentos/etiologia , Síndrome da Retração Ocular/patologia , Anormalidades do Olho/patologia , Feminino , Humanos , Deformidades Congênitas dos Membros/induzido quimicamente , Masculino , Síndrome de Möbius/patologia , Gravidez , Talidomida/administração & dosagem , Fatores de TempoRESUMO
OBJECTIVES: The purposes of this investigation were to determine the frequencies of and associations between different neurodevelopmental disorders and to study the potential lasting effects of alcohol on children adopted from eastern Europe. METHODS: In a population-based, prospective, observational, multidisciplinary, cross-sectional, cohort study of 71 children adopted from eastern Europe, children were assessed 5 years after adoption, from pediatric, neuropsychological, and ophthalmologic perspectives. RESULTS: Fetal alcohol spectrum disorders, that is, fetal alcohol syndrome (FAS), partial FAS, and alcohol-related neurodevelopmental disorders, were identified for 52% of children; FAS was found for 30%, partial FAS for 14%, and alcohol-related neurodevelopmental disorders for 9%. Alcohol-related birth defects were found for 11% of children, all of whom also were diagnosed as having FAS. Mental retardation or significant cognitive impairment was found for 23% of children, autism for 9%, attention-deficit/hyperactivity disorder for 51%, and developmental coordination disorder for 34%. CONCLUSIONS: Fetal alcohol spectrum disorders and neurodevelopmental disorders were common in this long-term follow-up study of children adopted from orphanages in eastern Europe. Maternal alcohol consumption during pregnancy has long-lasting adverse effects, causing structural, behavioral, and cognitive damage despite a radically improved environment.
Assuntos
Adoção , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Transtornos do Espectro Alcoólico Fetal/diagnóstico , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/epidemiologia , Pré-Escolar , Estudos de Coortes , Estudos Transversais , Técnicas de Diagnóstico Oftalmológico , Europa Oriental , Feminino , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Programas de Rastreamento/estatística & dados numéricos , Testes Neuropsicológicos/estatística & dados numéricos , Determinação da Personalidade/estatística & dados numéricos , Gravidez , Estudos Prospectivos , Psicometria , Escalas de Wechsler/estatística & dados numéricosRESUMO
PURPOSE: This study aimed to evaluate and relate visual function, ocular dimensions and neuropaediatric findings in adoptees from Eastern Europe. METHODS: We studied 72 of 99 children, born during 1990-95 and adopted from Eastern Europe to western Sweden during 1993-97. The children (mean age 7.5 years, range 4.8-10.5 years; 41 boys, 31 girls) were examined after a mean period of 5 years post-adoption by a multidisciplinary team. Correlations between ophthalmological findings and neuropaediatric data were analysed. RESULTS: Bivariate and regression analyses indicate a significant positive correlation between visual acuity (VA) and perceptual organization (p < 0.001), as well as between strabismus and verbal comprehension (p < 0.02). Fetal alcohol syndrome (FAS) was correlated with low VA (p < 0.02), subnormal stereovision (p < 0.009) and small optic discs (p < 0.02). Small head circumference was related to low VA (p < 0.015) and small optic discs (p < 0.03). Furthermore, small optic discs were related to low birthweight (p < 0.005) and preterm birth (p < 0.01). Large optic cups were correlated with poorer perceptual organization (p < 0.02). CONCLUSIONS: In this group of adoptees from Eastern Europe, ophthalmological findings were correlated to neuropaediatric findings, especially those arising from prenatal adverse events resulting in growth deficiency and central nervous system damage. Therefore, it is important and valuable with an ophthalmological examination in children adopted from Eastern Europe.
Assuntos
Adoção , Doenças do Sistema Nervoso/etnologia , Erros de Refração/etnologia , Estrabismo/etnologia , Transtornos da Visão/etnologia , Criança , Pré-Escolar , Europa Oriental/etnologia , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Distúrbios da Fala/etnologia , Suécia/epidemiologia , Testes Visuais , Acuidade VisualRESUMO
Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to damage to the cranial nuclei in the brain stem, resulting in aberrant neurologic connections causing a condition of abnormal ocular movement, Duane syndrome. A less frequent anomalous neurologic complication is tearing when eating (paradoxical gustolacrimal tearing or "crocodile tears") or lack of emotional tearing. The involvement of the 6th and 7th cranial nerves, often seen together in the thalidomide-affected individual, is also characteristic of Möbius syndrome/sequence. This syndrome usually occurs sporadically, but characteristic findings of this condition have also been observed in South American children who were born after an unsuccessful attempt to induce abortion with the prostaglandin drug misoprostol (Cytotec). Aberrant tearing also occurs in some individuals with Möbius syndrome. Autism spectrum disorder (ASD), an unexpected associated finding in a Swedish thalidomide study, is now also noted in Möbius studies, in patients both with and without exposure to misoprostol.
Assuntos
Anormalidades Induzidas por Medicamentos/etiologia , Anormalidades do Olho , Misoprostol/efeitos adversos , Teratogênicos/toxicidade , Talidomida/efeitos adversos , Adulto , Transtorno Autístico/induzido quimicamente , Transtorno Autístico/complicações , Criança , Pré-Escolar , Nervos Cranianos/efeitos dos fármacos , Nervos Cranianos/embriologia , Desenvolvimento Embrionário/efeitos dos fármacos , Anormalidades do Olho/induzido quimicamente , Anormalidades do Olho/complicações , Feminino , Humanos , Lactente , Doenças do Aparelho Lacrimal/induzido quimicamente , Doenças do Aparelho Lacrimal/complicações , Síndrome de Möbius/induzido quimicamente , Síndrome de Möbius/complicações , GravidezAssuntos
Adoção , Oftalmopatias/epidemiologia , Transtornos da Visão/epidemiologia , Criança , Pré-Escolar , Técnicas de Diagnóstico Oftalmológico , Europa Oriental/epidemiologia , Europa Oriental/etnologia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/epidemiologia , Anormalidades do Olho/etnologia , Oftalmopatias/diagnóstico , Oftalmopatias/etnologia , Feminino , Humanos , Masculino , Pais , Apoio Social , Suécia/epidemiologia , Suécia/etnologia , Transtornos da Visão/diagnóstico , Transtornos da Visão/etnologiaRESUMO
AIM: Children born after intracytoplasmic sperm injection (ICSI) are at risk of preterm birth, low birth weight and perinatal morbidity which may predispose for diseases of the central nervous and vascular systems. Our aim was to investigate the ocular fundus morphology in children born after ICSI. METHOD: Children born after ICSI (n = 82) had ocular fundus photographs taken at the age of 5 years and results were compared with those of a control group (n = 203). The ocular fundus morphology with the central retinal vessels was evaluated by digital image analysis. RESULTS: Children born after ICSI (n = 57) had abnormal retinal vascularization as evidenced by a lower number of vascular branching points compared with the control group (n = 181) (p = 0.0002). A gender difference was found whereby the ICSI boys (n = 35) had significantly fewer retinal branching points (median 24, range 19-29.5) compared with the control boys (median 27.5, range 20-37) (p < 0.0001). CONCLUSION: Our findings showed that ICSI boys have abnormal vessel morphology as demonstrated by a reduced number of central retinal branching points. The difference still remained after elimination of factors earlier shown to be associated with a low number of vascular branching points, i.e. low birth weight and preterm, suggesting other mechanisms responsible for the low number of vascular branching points.
Assuntos
Anormalidades do Olho/etiologia , Fundo de Olho , Disco Óptico/anormalidades , Vasos Retinianos/anormalidades , Injeções de Esperma Intracitoplásmicas/efeitos adversos , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , OftalmoscopiaRESUMO
PURPOSE: Congenital aberrant tearing is characterized by tearing when eating ("crocodile tears"), lack of emotional tearing, or both. Most reported cases are associated with Duane syndrome. In our previous studies we observed aberrant tearing in individuals with thalidomide embryopathy and Möbius sequence. This report summarizes the literature on the subject and adds 3 new studies that give information on this unusual condition. METHODS: Twenty-eight individuals with Möbius sequence were interviewed about tearing symptoms at a support group meeting in Italy. In Sweden 30 adults primarily from the original thalidomide series were reexamined. In this latter study, a Schirmer test was done at baseline and repeated 5 minutes after eating. Twenty families in Brazil who have children with Möbius sequence were questioned about tearing symptoms and exposure to misoprostol during pregnancy. RESULTS: In the 28 Italian individuals, either "crocodile tears" or lack of emotional tearing was noted in 7 cases. In the thalidomide study, 10 of 30 patients had tearing when eating and 7 had no emotional tearing. Low Schirmer scores or increased tearing after eating was noted in a few asymptomatic individuals. Among the 20 Brazilian children with Möbius sequence, 10 had some tearing abnormality. CONCLUSION: Congenital anomalous lacrimation is rare but usually associated with Duane syndrome or abduction deficits, as in Möbius sequence and, less frequently, facial nerve palsy. Studies implicate an early insult in development at 4 to 6 weeks. At that time the facial nerve, sixth nerve, and lacrimal nucleus are in close proximity in the embryo.
Assuntos
Anormalidades do Olho/diagnóstico , Doenças do Aparelho Lacrimal/congênito , Aparelho Lacrimal/anormalidades , Lágrimas/metabolismo , Anormalidades Induzidas por Medicamentos/diagnóstico , Síndrome da Retração Ocular/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Möbius/diagnóstico , Estudos Retrospectivos , Inquéritos e Questionários , Talidomida/efeitos adversosRESUMO
Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.
Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/patologia , Síndrome de Goldenhar/patologia , Deficiência Intelectual/patologia , Transtornos de Sensação/patologia , Distúrbios da Fala/patologia , Adolescente , Cérebro/anormalidades , Criança , Pré-Escolar , Orelha/anormalidades , Anormalidades do Olho/patologia , Feminino , Síndrome de Goldenhar/genética , Cardiopatias Congênitas/patologia , Humanos , Lactente , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Fatores de Risco , Coluna Vertebral/anormalidades , SuéciaRESUMO
As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
Assuntos
Transtorno Autístico/fisiopatologia , Encéfalo/anormalidades , Síndrome de Goldenhar/fisiopatologia , Adolescente , Transtorno Autístico/diagnóstico , Transtorno Autístico/reabilitação , Encéfalo/patologia , Encéfalo/fisiopatologia , Criança , Pré-Escolar , Manual Diagnóstico e Estatístico de Transtornos Mentais , Eletroencefalografia , Feminino , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/reabilitação , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Equipe de Assistência ao Paciente , Gravidez , Estudos Prospectivos , Fatores de Risco , Tomografia Computadorizada por Raios XRESUMO
DESIGN: A population-based study of pre-adoption, arrival and post-adoption health. AIM: To report prenatal and postnatal background factors, morbidity, growth and development in adoptees from Eastern Europe. SUBJECTS AND METHODS: All 99 children born in Eastern Europe between 1990 and 1995 and adopted to western Sweden during 1993-1997 were invited to participate in the study. Altogether, 76 (77%) participated. Medical records from the birth countries, from the examination at arrival and from medical reports made during a mean post-adoption period of 5 years were evaluated. RESULTS: Low birth weight (< or = 2500 g) occurred in 48%. Congenital malformations were found in 22%. The biological mothers of 33% of the children had been considered alcoholics, and 16% of the children's mothers had been diagnosed with a psychiatric disability. A high incidence of infectious diseases, neurodevelopment disorders and growth retardation had been noted during the pre-adoption period. Upon arrival in Sweden 75% were diagnosed with a medical condition, most often an infection. After a 5-year post-adoption period, small head circumference was associated with alcohol exposure during pregnancy and 46% had at least one neurodevelopment or behavioural disorder. CONCLUSION: Adverse prenatal and perinatal factors, congenital malformations and post-adoption neurodevelopment disorders were common. Adoptees and adopters have complex needs for health support and information.
Assuntos
Adoção , Nível de Saúde , Criança , Pré-Escolar , Estônia , Feminino , Seguimentos , Humanos , Lactente , Letônia , Masculino , Polônia/etnologia , Romênia , Federação Russa , SuéciaRESUMO
PURPOSE: To investigate visual function and ocular morphology in children born after intracytoplasmic sperm injection (ICSI) and compare them with visual function and ocular morphology in matched children born after spontaneous conception. METHODS: A total of 137 children born after ICSI and 159 control children were examined at the age of 5 years in a blinded study. The two groups were matched for age, gender and maternal age. The children underwent a detailed ophthalmological investigation by an ophthalmologist and an orthoptist. RESULTS: A total of 90.4% of the ICSI children had a visual acuity (VA) in the better eye of >or= 0.8, compared with 93.7% of the controls (NS). No significant differences were found between ICSI children and controls with regard to hyperopia, myopia, astigmatism, heterotropia, stereoscopic vision and convergence. One child with Goldenhar syndrome and one with Marcus Gunn syndrome were observed in the ICSI group. One child in the ICSI group was treated for retinopathy of prematurity. CONCLUSION: In this limited study group, no significant differences in visual function and/or ocular morphology were found between children born after ICSI and matched control children at the age of 5 years.
Assuntos
Fenômenos Fisiológicos Oculares , Injeções de Esperma Intracitoplásmicas , Acuidade Visual/fisiologia , Estudos de Casos e Controles , Pré-Escolar , Cognição/fisiologia , Feminino , Idade Gestacional , Humanos , Inteligência/fisiologia , Masculino , Idade Materna , Refração Ocular/fisiologia , Erros de Refração/epidemiologia , Suécia/epidemiologia , Transtornos da Visão/epidemiologia , Testes VisuaisRESUMO
The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic-like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three-quarters of examined individuals, and midline abnormalities of the forebrain in one-third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.
Assuntos
Anormalidades Múltiplas/patologia , Transtorno Autístico/classificação , Transtorno Autístico/patologia , Encéfalo/anormalidades , Encéfalo/patologia , Adolescente , Adulto , Doenças do Sistema Nervoso Autônomo/patologia , Criança , Transtornos do Comportamento Infantil/patologia , Pré-Escolar , Cognição , Coloboma/patologia , Anormalidades Craniofaciais/patologia , Feminino , Perda Auditiva/patologia , Cardiopatias Congênitas/patologia , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Gravidez , Complicações na Gravidez/patologia , Tomografia Computadorizada por Raios XRESUMO
Autism is a complex developmental disorder without an established single etiology but with significant contributions from genetic studies, functional research, and neuropsychiatric and neuroradiologic investigations. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects. These investigations include two associated with teratogens (thalidomide embryopathy, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology. These studies suggest that early embryonic development errors often involving cranial nerve palsies, internal and external ear malformations, ophthalmologic anomalies, and a variety of systemic malformations may be associated with autism spectrum disorders statistically more frequently than expected in a normal population. Although the exact time of developmental insult for each condition cannot be identified, the evidence is that it may occur as early as week 4 to 6+ of embryogenesis.
Assuntos
Anormalidades Múltiplas/fisiopatologia , Transtorno Autístico/etiologia , Anormalidades Congênitas/fisiopatologia , Desenvolvimento Embrionário , Adulto , Transtorno Autístico/diagnóstico , Transtorno Autístico/epidemiologia , Criança , Pré-Escolar , Anormalidades Congênitas/epidemiologia , Anormalidades Craniofaciais/fisiopatologia , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/epidemiologia , Síndrome de Goldenhar/fisiopatologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Síndrome de Möbius/diagnóstico , Síndrome de Möbius/epidemiologia , Síndrome de Möbius/fisiopatologia , Suécia/epidemiologia , Talidomida/intoxicaçãoRESUMO
CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
Assuntos
Anormalidades Múltiplas/patologia , Atresia das Cóanas/patologia , Coloboma/patologia , Cardiopatias Congênitas/patologia , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Transtorno Autístico/patologia , Transtorno Autístico/fisiopatologia , Criança , Pré-Escolar , Surdez/patologia , Orelha/anormalidades , Feminino , Genitália/anormalidades , Transtornos do Crescimento/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Idade Paterna , Fatores de Risco , Suécia , SíndromeRESUMO
Children with fetal alcohol syndrome (FAS) may have impaired vision and various ocular abnormalities. All parts of the eye may be affected and anomalies such as microphthalmus, microcornea, Peters' anomaly, cataract, persistent hyperplastic primary hyaloid vitreous body, coloboma of the iris and choroid, retinal dysplasia and, most commonly, optic nerve hypoplasia and tortuosity of the retinal vessels, have been reported. The periocular facial features consist of short palpebral fissures (included in the criteria for diagnosis of FAS), telecanthus, epicanthus and blepharoptosis. Visual function may be reduced to a moderate or severe degree. Refractive errors and strabismus are common. Considering the high frequency of ocular pathology in FAS, an ophthalmological examination is helpful in making the diagnosis. The early detection of impaired vision and ocular abnormalities in affected children is important in the management of the disorder. In this article, the ophthalmological signs and symptoms in children with FAS are presented.
Assuntos
Anormalidades do Olho , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos da Percepção/fisiopatologia , Percepção Visual/fisiologia , Criança , Anormalidades do Olho/epidemiologia , Feminino , Humanos , Transtornos da Percepção/epidemiologia , Gravidez , Erros de Refração/epidemiologiaRESUMO
PURPOSE: To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. METHODS: In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt. RESULTS: In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). CONCLUSION: Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.