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ISSN 2225-4676 (Electronic)

2021, Number 1

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Rev Cubana Neurol Neurocir 2021; 11 (1)

Dysmorphic variations in primary autism

Quintana HD, Lantigua CA, Tamargo BTO, Tasé VD, Calixto RY, Dorta GD

Language: Spanish
References: 31
Page: 1-20
PDF size: 311.49 Kb.


ABSTRACT

Objective: To dysmorphologically analyze the characteristics of children with primary autism.
Methods: A matched case-control study was carried out in 126 children with primary autism, who were assisted at the National Reference Service for Medical Genetics, at Juan Manuel Márquez Pediatric Teaching Hospital in Havana, and at the Provincial Consultation of Neurodevelopment, in Mayabeque, from October 2014 to September 2019. The variables studied included dysmorphic features, number of dysmorphies, and anatomical regions. The statistical analysis, measures of frequencies and association were used.
Results: 21% of the cases were dysmorphic, while 8.7% of the control cases had this category. 58.8% of the female subjects and 43.1% of the male ones had dysmorphia. In these cases, dysmorphia predominated in the head - neck region (62.7%). Sixty-six different dysmorphies were described; macrocephaly was the most frequent one in cases (42.9%) and control cases (16.7%). An association between the number of dysmorphs and the diagnosis of primary autism was demonstrated with an OR = 1,994; 95% CI: 1.613-2.463. Head-neck and integumentary alterations were associated with primary autism (OR = 5,750 and OR = 2,174, respectively).
Conclusions: The evidence suggests that dysmorphic features are more frequent in children with primary autism than in neurotypical control cases, mainly those of the head-neck and integument regions. The probability of having this disorder increases as the number of dysmorphies increases.


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