1. Chiappedi M, Rossi G, Rossi M, Bejor M, Balottin U. {{Autism and classification systems: a study of 84 children}}. {Ital J Pediatr};36(1):10.
ABSTRACT: BACKGROUND: A number of studies have shown that current classification systems (ICD 10, DSM IV TR) have limitation when applied to autistic children and the category PDD NOS (DSM IV TR) has in particular been criticized. To check the possible usefulness of other classification systems to better describe patient’s functioning, we retrospectively studied 84 patients, seen consecutively in our Child Neurology and Psychiatry Department (excluding only those presenting for another disease even if with clinical signs of a PDD). METHODS: We tried to classify them according to ICD 10, DSM IV TR, CFTMEA-R, « operational classification » (Manzano and Palacio) and de Ajuriaguerra’s classification. RESULTS: We found a good correspondence between DSM IV TR and ICD 10 and the use of psychodynamic classification systems (in particular CFTMEA-R) was useful to differentiate clinical subtypes collected under the PDD NOS etiquette according to DSM IV TR. CONCLUSIONS: To rationalize research efforts and find better tailored therapies, we need to improve PDD classification systems, using contributions coming from every field of child psychiatry and neurology: it’s possible that 0-3 Classification could help this.
2. Curatolo P, Napolioni V, Moavero R. {{Autism Spectrum Disorders in Tuberous Sclerosis: Pathogenetic Pathways and Implications for Treatment}}. {J Child Neurol} (Mar 5)
Autism spectrum disorders have been reported as being much more frequent in individuals with tuberous sclerosis than in the general population. Previous studies have implicated early seizure onset and the localization of cortical tubers in the temporal lobes as risk factors for autism. However, the underlying reasons for this association remain largely unclear. The dysregulation of intracellular signaling through the activation of mTOR pathway could play a direct role in determining susceptibility to autism. Early control of seizures and an early intensive behavioral intervention of autism during the period of brain plasticity can mitigate, but not reverse the final outcome. A greater understanding of the pathogenetic mechanisms underlying autism in tuberous sclerosis could help in devising targeted and potentially more effective treatment strategies.
3. Fernell E, Hedvall A, Norrelgen F, Eriksson M, Hoglund-Carlsson L, Barnevik-Olsson M, Svensson L, Holm A, Westerlund J, Gillberg C. {{Developmental profiles in preschool children with autism spectrum disorders referred for intervention}}. {Res Dev Disabil} (Mar 4)
The aim was to characterize the panorama of developmental disorders in 208 preschool children with a clinical diagnosis of autism spectrum disorder (ASD), referred to a specialized centre, the Autism Centre for Young Children (ACYC), for intervention. At the centre, a research team examined all children according to structured protocols and interviews. All available test data from their assessments prior to referral were scrutinized. The boy:girl ratio was 5.5:1. In 22% of the total group a period of regression, including speech and language, had occurred. Epilepsy had been diagnosed in 6% of the children. In 38% of the children there was a definite or highly suspected learning disability/mental retardation according to cognitive test results. About the same proportion had a developmental delay that at the time of assessment could not be definitely classified and in 23% there were clear indications of a normal intellectual function. About 40% of the group exhibited hyperactivity. Differences in expressive vocabulary and adaptive functioning were strongly related to cognitive level. About 20% of the group had AD as the dominating developmental disorder, i.e., they represented a clinical picture of « classic » autism. The majority in this group also had learning disability. Another 20%, had ASD combined with a normal intellectual level, some of these conformed to the clinical picture of Asperger syndrome. In a relatively large group (more than half) learning disability or a general developmental delay was as evident as the ASD. In a smaller group (8%) ASD criteria were questionably met. In this group attention deficits in connection with speech and language problems were prominent. The highly individual developmental profiles seen in children with ASDs have to be taken into account when planning intervention and follow-up. The children’s medical characteristics also vary considerably and will be detailed in a further report.
4. Smith KR, Matson JL. {{Psychopathology: Differences among adults with intellectually disabled, comorbid autism spectrum disorders and epilepsy}}. {Res Dev Disabil} (Mar 3)
The goal of this study was to systematically examine group differences among adults with intellectual disabilities (ID), comorbid autism spectrum disorders (ASD), and epilepsy through a detailed exploration of the characteristics that these disorders present in the area of psychopathology. Previous studies indicating that individuals with ID have comorbid ASD and epilepsy tend to stop short of addressing these disorders’ impact on the full range of psychosocial issues, particularly in adult samples. Assessment of psychopathology was made with the ASD-comorbidity-adult version (ASD-CA). One hundred participants, with ID held constant, were matched and compared across four equal groups comprising 25 participants with ID, 25 participants with epilepsy, 25 participants with ASD, and 25 participants with combined ASD and epilepsy. When controlling for age, gender, race, level of ID, and hearing and visual impairments, results of the MANOVA revealed significant differences among groups, Wilks’s Lambda=.76, F(15, 254)=1.82, p<.05, eta(2)=.09. A one-way ANOVA was conducted for each of the five subscales of the ASD-CA as follow-up tests to the MANOVA. Groups differed significantly Anxiety/Repetitive Behavior subscale, F(3, 96)=2.93, p<.05, eta(2)=.08, Irritability/Behavior excess subscale, F(3, 96)=4.74, p<.01, eta(2)=.13, Attention/Hyperactivity subscale, F(3, 96)=5.18, p<.01, eta(2)=.14, and Depressive Symptoms subscale, F(3, 96)=3.73, p<.01, eta(2)=.10. Trend analysis demonstrated that individuals with ID expressing combined comorbid ASD and epilepsy were significantly more impaired than the control group (ID only) or groups containing only a single comorbid factor with ID (ASD or epilepsy only). Implications of these findings elucidate the nature of these disorders and their influence on patient care and management.
5. Whitehouse AJ, Maybery MT, Hart R, Mattes E, Newnham JP, Sloboda DM, Stanley FJ, Hickey M. {{Fetal androgen exposure and pragmatic language ability of girls in middle childhood: Implications for the extreme male-brain theory of autism}}. {Psychoneuroendocrinology} (Mar 3)
Prenatal exposure to testosterone has been shown to affect fetal brain maturation as well as postnatal cognition and behavior in animal studies. Although there are well-established sex-differences in the use of social communication (or ‘pragmatic language’) in humans, there has been limited investigation of the association between fetal testosterone exposure and postnatal pragmatic language ability. In this prospective study, pragmatic language skills, assessed using a pragmatic language score (PLS), were measured in 78 girls aged 10 years and correlated with testosterone levels in umbilical cord blood. A measure of the biologically active, ‘free’ fraction of testosterone, the free androgen index (FAI), was positively correlated with the PLS (R=.3). Regression analyses showed that the FAI was a significant, positive predictor of pragmatic language difficulties in girls after controlling for maternal and infant-health variables (B=0.02, 95% confidence interval=0.01-0.04, p=0.02). This is the first prospective study to identify an association between early life testosterone exposure and pragmatic language difficulties in girls. These novel findings are discussed with reference to the ‘extreme male-brain’ theory of autism.
6. Zhu X, Li M, Pan H, Bao X, Zhang J, Wu X. {{Analysis of the Parental Origin of De Novo MECP2 Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China}}. {J Child Neurol} (Mar 5)
Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene. Due to the sex-limited expression, it has been suggested that de novo X-linked mutations may exclusively occur in male germ cells and thus only females are affected. In this study, the authors have analyzed the parental origin of mutations and the X-chromosome inactivation status in 24 sporadic patients with identified methyl-CpG-binding protein2 gene mutations. The results showed that 22 of 24 patients have a paternal origin. Only 2 patients have a maternal origin. Except for 2 cases which were homozygotic at the androgen receptor gene locus, of the remaining 22 cases, 16 cases have a random X-chromosome inactivation pattern; the other 6 cases have a skewed X-chromosome inactivation and they favor expression of the wild allele. The relationship between X-chromosome inactivation and phenotype may need more cases to explore.
