José Marcelino Bandim

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review

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, Möbius sequence with misoprostol) and three (most Möbius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology.

AUTISM AND MÖBIUS SEQUENCE An exploratory study of children in northeastern Brazil

The psychiatric examination was performed with diagnostic instruments for autism (DSM-IV and Childhood Autism Rating Scale-CARS) in 23 children with Möbius sequence. From the 23 patients studied with Möbius sequence, five (26.1%) met the diagnostic criteria for infantile autism according DSM-IV and two (8.6%), under two years old, showed autistic-like behavior. The scores for six children were compatible to severe autism symptoms according CARS and one child met the criteria for moderate autism symptoms. Among five children with autism, three (60%) had positive history of misoprostol exposure during the first trimester of pregnancy and from two cases autistic-like, one (50%) had positive history of misoprostol exposure during pregnancy. According to our data, this is the first report of Möbius sequence with autism and positive history of misoprostol use during pregnancy.

Fetal alcohol spectrum disorders among children in a Brazilian orphanage

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.

Transtornos depressivos em crianças com leucemia linfoide aguda e com insuficiência renal crônica terminal: estudo de série de casos

OBJETIVO: Investigar a presenca de transtornos depressivos em criancas portadoras de leucemia linfoide aguda (LLA) e insuficiencia renal cronica terminal (IRCT) atendidas no IMIP. METODO: Estudo descritivo do tipo serie de casos, composto por 52 criancas entre 8 e 15 anos portadoras de LLA e de IRCT. RESULTADOS: Tres (5,8%) casos preenchiam os criterios para episodio depressivo maior (EDM), sendo dois portadores de IRCT e um portador de LLA. Oito (15,4%) preenchiam os criterios para transtorno distimico (TD), todos eles portadores de IRCT. A associacao entre faixa etaria e EDM nao foi significativa (p=0,327). Entretanto, a faixa etaria foi significante em relacao ao TD (p=0,014), todos os seus portadores tinham entre 12 e 15 anos de idade. A associacao entre os transtornos depressivos e o tempo de evolucao da doenca de base nao foi significante. Contudo, observou-se uma tendencia a quanto maior o tempo de evolucao da doenca de base, maior a associacao com o TD. CONCLUSAO: A frequencia de EDM ficou dentro da faixa encontrada na literatura para escolares saudaveis, entretanto, a de TD foi mais alta. Nao foram encontradas diferencas significantes entre as faixas etarias no diagnostico de EDM. Porem, corroborando a literatura, a faixa etaria maior prevaleceu em relacao ao TD.