Review articleAutistic regression with and without EEG abnormalities followed by favourable outcome
Introduction
Autism and epilepsy are defined by behaviour, paroxysmal in the latter, based on socio-communicative difficulties and repetitive modalities in the former. Epilepsy and EEG abnormalities are also a frequent finding in autism spectrum disorders (ASD) [1]. Both disorders have a composite, varied etiology and share the presence of subgroups of children where the disorder is benign with a favourable outcome.
ASD can have a positive outcome and affected children go “off autism” in two basic situations. One is represented by children affected by a disorder where epilepsy plays a crucial role and appropriate pharmacological treatment may lead to recovery: a number of studies have given the corresponding evidence [2], [3], [4], [5], [6], [7], [8]. The second situation is represented by children where physical abnormalities and/or epilepsy are never mentioned: the present author has reported them in previous studies, evaluating neurological symptoms, family history, presence or absence of regression and other details, included them among developmental disorders and defined them as a dysmaturational syndrome [9], [10], [11], [12], [13], [14], [15], [16]. The literature, however, has several descriptions of children with ASD with favourable outcome described essentially by their psychological features [17], [18], [19].
Children falling within these categories are usually taken from relatively small series of children with ASD. The study of a large population of young children with ASD seen in the outpatient clinic of a child neuropsychiatrist, as the present report, can give additional knowledge and suggest the appropriate steps to professionals working with children affected by ASD and searching for cases potentially reversible.
Section snippets
Methods
All children aged 5 years or below examined by the author in his private outpatient clinic between the beginning of 2000 and the end of 2008 were evaluated and those with an initial diagnosis of ASD became the object of the present study. Children belonging to specific syndromes such as tuberous sclerosis, fragile X, and Down syndrome were excluded from this study. In every child a number of data had been systematically collected, including information concerning the mental health of parents
Results
Five hundred and thirty four children had ASD: 446 were males and 88 were females (see Table 1). The ratio of males to females was 5.06, slightly divergent from common data, usually around 3.5:1 [23], but consistent with other reports ranging, for example, from 3.4:1 to 6.5:1 in different states of US [24]. Within this population 167 children (31.8%) had an AR, usually during their second year of life. In the subgroup with AR motor and/or vocal tics appeared within 1 year from the beginning of
Case 1
A girl with a normal development up to 3 years and a half had a severe regression at this age losing language and social skills. This disorder was accompanied by the appearance of myoclonic jerks of her head. She was seen at 4 years 6 months when she was found mute with no verbal comprehension, accompanied by a severe disorder involving relationships and communication. She scored 35 at CARS and 60 at ABC with a full autistic picture at a DSM IV R evaluation: the EEG showed multifocal frontal and
Discussion
The present study shows that children with favourable outcome have had previously an AR in all cases except one: this was true for those belonging to the dysmaturational syndrome as well as for two cases with epilepsy and/or abnormal EEG. The latter subgroup includes children with a clear epileptic disorder as in case 1 (LKS). In this case epilepsy apparently originates in brain networks responsible for communication and interaction causing as a consequence autistic behaviour, due to multiple
Limitations
This study has the limitations implicit in data collected in an outpatient clinic by the author alone: in contrast with a hospital population, observations and collection of data are not confirmed by another professional. The time of observation is more limited; in addition the family can be less compliant and, if the child is definitely better, avoid another consultation and follow up with a possible, consequent reduction in the number of children who went off autism.
Acknowledgment
This paper was presented at the International Symposium on Epilepsy in Autism Spectrum Disorders and Related Conditions (The 12th Annual Meeting of the Infantile Seizure Society), Kurume Japan, May 9–10, 2009.
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