Minor physical anomalies in children with autism spectrum disorder☆
Introduction
Autism Spectrum Disorder (ASD) is a heterogeneous and wide spectrum [1] of neurobiological disorders [2], [3], [4], [5] with a prevalence of 3 to 6/1000, and an approximate ratio of 3:1 of affected male to female [6].
Commonly in literature, autistic disorder (AD), pervasive developmental disorder-not otherwise specified (PDD-NOS), and Asperger syndrome (AS) are collectively referred to as ASD [7]; a wide phenotype characterizes this spectrum by impairments in three behavioural domains: social interaction; language, communication, and imaginative play; range of interests and activities [8].
Mental retardation [9], epilepsy [10], chromosomal and single gene disorders [11], [12] and pre-, peri- and neonatal factors [13] are highly associated to this wide phenotype.
Furthermore, previous studies described different patterns of minor physical anomalies (MPAs) in association with ASD [14], [15], [16], [17], [18], [19].
MPAs are mild errors of morphogenesis with a pre-natal origin (the first or the second trimester of pregnancy); their special relevance in psychiatry is determined by the common ectodermal embryonic origin with the central nervous system, representing external markers of abnormal brain development [14], [20], [21].
According to the International Working Group report [22], which establishes a clear distinction between morphogenetic events developed during or after organogenesis, MPAs may be classified into “Minor Malformations (MM)” and “Phenogenetic Variants” (PV).
MM are qualitative defects of embryogenesis and arise during organogenesis; their classification is based on the principle of “all or none”, being true deviations from normal.
In contrast, PV are phenogenetic quantitative defects of final morphogenesis arising after organogenesis and continuously modifying from the birth until sexual maturity; they morphologically represent the exact equivalent of the normal anthropometric variants [21], [22], [23].
The aim of the present study was to investigate the rate and topological profile of minor physical anomalies in a group of children with ASD, in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology.
Section snippets
Subjects
The population of this study is composed by 24 subjects (22 M:2 F; mean age = 7 years; S.D. = 2.29) affected by ASD (18 subjects with AD, 2 subjects with AS , 4 subjects with PDD-NOS), and 24 healthy comparison subjects (19 M:5 F; mean age = 7 years, S.D. = 2.29). These subjects have been selected at the “Bretonneau Hospital-Department of Pedopsychiatry” in Tours (France) and at the “Aiuto Materno Hospital-Department of child neuropsychiatry” in Palermo (Italy). The study was performed in accordance
Results
We examined the ability of our methodology to differentiate between ASD groups and control subjects. Concerning the ASD children with MPAs (n = 23; 96%), 6 subjects had more than 5 anomalies, 17 had 1–5 MPAs, while 1 subject was without MPAs. In the control group no subject had more than 5 anomalies, 18 were with 1–5 MPAs, while 6 were without MPAs. Further, using Mann–Whitney U-test, we found significant differences, between the two groups, on the means of scale total score (p < 0,00001) as well
Discussion
The ASD patient group showed a much higher level of minor physical anomalies than the normal comparison subjects, corroborating the results from previous research [15], [16], [17], [18], [19].
The brain develops in a sequential and hierarchical way, then it is important to keep in mind that these minor physical anomalies are fossilized imprints of early disturbance in embryonic development and are unaltered by the subsequent illness and its consequences [20]. Rather than examining the total
References (38)
The autistic spectrum
Lancet
(1997)- et al.
Minor physical anomalies in schizophrenia and bipolar affective disorders
Schizophr Res
(2001) - et al.
Errors of morphogenesis: concepts and terms
J Pediatry
(1982) - et al.
Further clinical evaluations elicited by functional biological investigations in childhood autism (article in French)
Encephale
(1998) - et al.
The neurobiological basis of autism from a developmental perspective
Dev Psychopat
(2002) - et al.
The autistic brain: birth through adulthood
Curr Opin Neurol
(2004) - et al.
L' Autisme
- et al.
The genetics of autism
Pediatrics
(2004) - et al.
Prevalence of autism in a United States population: the Brick Township, New Jersey, investigation
Pediatrics
(2005) Diagnostic and Statistical Manual of Mental Disorders, DSM IV
(1994)
The neurobiology of infantile autism
J Child Psychol Psychiatry
Indices of neuronal function in autism: clinical and biologic implications
Pediatrics
Genetics of autism
Specific genetic disorder and autism: clinical contribution towards their identification
J Autism Dev Disord
Prenatal, perinatal, and neonatal factors in autism, pervasive developmental disorder—not otherwise specified, and the general population
Pediatrics
Minor physical anomalies and behaviour in preschool children
Child Dev
Incidence of minor physical anomaly in autism
J. Autism Child. Schizophrenia
Minor physical anomalies in young psychotic children
Am J Psychiatry
Minor physical anomalies in alcoholic and schizophrenic adults and hyperactive and autistic children
Am J Psychiatry
Cited by (0)
- ☆
The study was performed in accordance with basic principles of the Declaration of Helsinki (1); the hospital ethical committees of “Aiuto Materno” hospital (Palermo, Italy) and CHRU Bretonneau (Tours, France) have approved all the study procedures and all parents gave informed consent.