1. Bakken TL, Helverschou SB, Eilertsen DE, Heggelund T, Myrbakk E, Martinsen H. {{Psychiatric disorders in adolescents and adults with autism and intellectual disability: A representative study in one county in Norway}}. {Res Dev Disabil} (May 19)
Few studies assess psychiatric disorders in representative samples of individuals with autism and ID. Symptoms of autism and psychiatric disorders have been confounded. PAC, a conceptually analysed and validated screening instrument, was used. AIMS: Assess prevalence of psychiatric disorders in individuals with intellectual disability only (ID-only) and with combination of autism and ID (autism). Sixty-two (autism) and 132 (ID-only) participants were screened for psychiatric disorders with the Psychopathology in Autism Checklist (PAC); included general adjustment problems (GAP), and severe adjustment problems (SGAP) in one county in Norway. Psychosis, depression, anxiety, and OCD were addressed. Both SGAP and a high psychiatric disorder score were required to screen a psychiatric disorder. « Diagnostic overlap » was defined as more than one psychiatric disorder concurrent with autism. Psychiatric disorders and SGAP were found to be high both in the autism (53.2%) and ID-only group (17.4%). More than 50% of the autism and approximately 20% of ID-only group had SGAP. The differences were significant. The autism-psychiatric disorder interaction was significant. The largest differences between the prevalence in the autism and the ID-only group were shown in individuals with anxiety. The majority of the individuals in both study groups were afflicted with more than one psychiatric disorder. About 60% were found to have more than one disorder. The individuals with more severe psychiatric symptoms had higher degrees of diagnostic overlap. Having an intellectual disability seem to imply high risk for developing adjustment problems, and it seems especially difficult for individuals with autism to master every-day challenges.
2. Barbaro J, Dissanayake C. {{Prospective Identification of Autism Spectrum Disorders in Infancy and Toddlerhood Using Developmental Surveillance: The Social Attention and Communication Study}}. {J Dev Behav Pediatr} (May 20)
OBJECTIVE:: Despite behavioral markers of autism spectrum disorders (ASDs) being evident within the first year of life, there remains little research on the prospective identification of these children in a community-based setting before 18 months. The aim in the Social Attention and Communication Study was to identify infants and toddlers at risk of an ASD during their first 2 years. METHODS:: A total of 241 Maternal and Child Health nurses were trained on the early signs of ASDs at 8, 12, 18 and 24 months. Using a developmental surveillance approach with a community-based sample, a cohort of 20,770 children was monitored on early social attention and communication behaviors. Those infants/toddlers identified as « at risk » were referred to the Social Attention and Communication Study team from 12 months for developmental and diagnostic assessments at 6 monthly intervals, until 24 months. RESULTS:: A total of 216 children were referred, with 110 being further assessed. Of these, 89 children were classified with an ASD at 24 months, and 20 children had developmental and/or language delays, resulting in a Positive Predictive value of 81%. The estimated rate of ASDs in the Social Attention and Communication Study cohort ranged from 1:119 to 1:233 children. Estimated sensitivity ranged from 69% to 83.8%, and estimated specificity ranged from 99.8% to 99.9%. CONCLUSION:: Developmental surveillance of social and communication behaviors, which differ according to the age at which the child is monitored, enables the accurate identification of children at risk for ASDs between 12 and 24 months. Education on the early signs is recommended for all primary health care professionals to facilitate early identification of ASDs.
3. Cannell JJ. {{On the Etiology of Autism}}. {Acta Paediatr} (May 19)
4. Green J, Charman T, McConachie H, Aldred C, Slonims V, Howlin P, Le Couteur A, Leadbitter K, Hudry K, Byford S, Barrett B, Temple K, Macdonald W, Pickles A. {{Parent-mediated communication-focused treatment in children with autism (PACT): a randomised controlled trial}}. {Lancet} (May 20)
BACKGROUND: Results of small trials suggest that early interventions for social communication are effective for the treatment of autism in children. We therefore investigated the efficacy of such an intervention in a larger trial. METHODS: Children with core autism (aged 2 years to 4 years and 11 months) were randomly assigned in a one-to-one ratio to a parent-mediated communication-focused (Preschool Autism Communication Trial [PACT]) intervention or treatment as usual at three specialist centres in the UK. Those assigned to PACT were also given treatment as usual. Randomisation was by use of minimisation of probability in the marginal distribution of treatment centre, age (</=42 months or >42 months), and autism severity (Autism Diagnostic Observation Schedule-Generic [ADOS-G] algorithm score 12-17 or 18-24). Primary outcome was severity of autism symptoms (a total score of social communication algorithm items from ADOS-G, higher score indicating greater severity) at 13 months. Complementary secondary outcomes were measures of parent-child interaction, child language, and adaptive functioning in school. Analysis was by intention to treat. This study is registered as an International Standard Randomised Controlled Trial, number ISRCTN58133827. RESULTS: 152 children were recruited. 77 were assigned to PACT (London [n=26], Manchester [n=26], and Newcastle [n=25]); and 75 to treatment as usual (London [n=26], Manchester [n=26], and Newcastle [n=23]). At the 13-month endpoint, the severity of symptoms was reduced by 3.9 points (SD 4.7) on the ADOS-G algorithm in the group assigned to PACT, and 2.9 (3.9) in the group assigned to treatment as usual, representing a between-group effect size of -0.24 (95% CI -0.59 to 0.11), after adjustment for centre, sex, socioeconomic status, age, and verbal and non-verbal abilities. Treatment effect was positive for parental synchronous response to child (1.22, 0.85 to 1.59), child initiations with parent (0.41, 0.08 to 0.74), and for parent-child shared attention (0.33, -0.02 to 0.68). Effects on directly assessed language and adaptive functioning in school were small. INTERPRETATION: On the basis of our findings, we cannot recommend the addition of the PACT intervention to treatment as usual for the reduction of autism symptoms; however, a clear benefit was noted for parent-child dyadic social communication. FUNDING: UK Medical Research Council, and UK Department for Children, Schools and Families.
5. Groen W, Teluij M, Buitelaar J, Tendolkar I. {{Amygdala and Hippocampus Enlargement During Adolescence in Autism}}. {J Am Acad Child Adolesc Psychiatry} (Jun);49(6):552-560.
OBJECTIVE: The amygdala and hippocampus are key components of the neural system mediating emotion perception and regulation and are thought to be involved in the pathophysiology of autism. Although some studies in children with autism suggest that there is an enlargement of amygdala and hippocampal volume, findings in adolescence are sparse. METHOD: We measured amygdala and hippocampus volume in a homogeneous group of adolescents with autism (12 through18 years; n = 23) and compared them with an age-, sex-, and IQ-matched control group (n = 29) using a validated automated segmentation procedure in 1.5-T magnetic resonance images. All analyses were adjusted for total brain volume. RESULTS: Repeated-measures analysis revealed a significant group x hemisphere x brain structure interaction (p = .038), even when corrected for total brain volume. Post-hoc analysis showed that the right amygdala and left hippocampus were significantly enlarged (p = .010; p = .015) in the autism compared with the control group. There were no significant correlations between age and amygdala or hippocampus volume. CONCLUSIONS: The abnormal enlargement of the amygdala and hippocampus in adolescents with autism adds to previous findings of enlargement of these structures in children with autism. This may reflect increased activity of these structures and thereby altered emotion perception and regulation. Our results could therefore be interpreted in light of developmental adaptation of the autistic brain to a continuous overflow of emotional learning experiences.
6. Nadig A, Lee I, Singh L, Bosshart K, Ozonoff S. {{How does the topic of conversation affect verbal exchange and eye gaze? A comparison between typical development and high-functioning autism}}. {Neuropsychologia} (May 19)
Conversation is a primary area of difficultly for individuals with high-functioning autism (HFA) although they have unimpaired formal language abilities. This likely stems from the unstructured nature of face-to-face conversation as well as the need to coordinate other modes of communication (e.g. eye gaze) with speech. We conducted a quantitative analysis of both verbal exchange and gaze data obtained from conversations between children with HFA and an adult, compared with those of typically-developing children matched on language level. We examined a new question: How does speaking about a topic of interest affect reciprocity of verbal exchange and eye gaze? Conversations on generic topics were compared with those on individuals’ circumscribed interests, particularly intense interests characteristic of HFA. Two opposing hypotheses were evaluated. Speaking about a topic of interest may improve reciprocity in conversation by increasing participants’ motivation and engagement. Alternatively, it could engender more one-sided interaction, given the engrossing nature of circumscribed interests. In their verbal exchanges HFA participants demonstrated decreased reciprocity during the interest topic, evidenced by fewer contingent utterances and more monologue-style speech. Moreover, a measure of stereotyped behaviour and restricted interest symptoms was inversely related to reciprocal verbal exchange. However, both the HFA and comparison groups looked significantly more to their partner’s face during the interest than generic topic. Our interpretation of results across modalities is that circumscribed interests led HFA participants to be less adaptive to their partner verbally, but speaking about a highly practiced topic allowed for increased gaze to the partner. The function of this increased gaze to partner may differ for the HFA and comparison groups.
7. Nissenkorn A, Gak E, Vecksler M, Reznik H, Menascu S, Ben Zeev B. {{Epilepsy in Rett syndrome-The experience of a National Rett Center}}. {Epilepsia} (May 14)
Summary Purpose: Rett syndrome (RTT), an X-linked, dominant neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, presents with acquired microcephaly, autistic regression, hand usage loss, and stereotypies. Epilepsy is frequent and has been reported to correlate with mutation type, general disease severity, and BDNF polymorphism. Our purpose was a comprehensive description of epilepsy features and course in RTT. Methods: Retrospective review of charts and electroencephalography (EEG) studies in 97 patients with RTT. Results: Seventy-two percent of patients had epilepsy, appearing at a median age of 3 years. According to age of onset, we divided patients into three groups: 6 with early epileptic variant (0-1 year), 42 with early epilepsy (1-5 years), and 20 with late epilepsy (after 5 years). Early epileptic variant had severe seizure types in the first year of life, followed by a typical RTT picture; all were MECP2 negative. Early epilepsy and late epilepsy groups were similar with respect to Rett-related symptoms, but seizures were better controlled in the second group (p < 0.05). Epileptiform activity appeared earlier and was more confluent in the early epilepsy group, including nine patients with electrical status epilepticus during sleep (ESES) versus one in the late epilepsy group (p < 0.05). No correlation was found between epilepsy onset or severity and genotype. BDNF val/met polymorphism correlated with earlier onset of seizures (p < 0.05). Discussion: Epilepsy appears earlier than described previously, frequently during the regression stage. Early age of onset predicts a more severe course of seizures. ESES is common among those with early onset epilepsy. BDNF polymorphism was the only genetic correlate with seizure onset, whereas MECP2 mutation type and location did not influence epilepsy.
8. Qiu A, Adler M, Crocetti D, Miller MI, Mostofsky SH. {{Basal Ganglia Shapes Predict Social, Communication, and Motor Dysfunctions in Boys With Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry} (Jun);49(6):539-551 e534.
OBJECTIVE: Basal ganglia abnormalities have been suggested as contributing to motor, social, and communicative impairments in autism spectrum disorder (ASD). Volumetric analyses offer limited ability to detect localized differences in basal ganglia structure. Our objective was to investigate basal ganglia shape abnormalities and their association with behavioral features of ASD, which may involve multiple frontal-subcortical circuits. METHOD: Basal ganglia were manually delineated from MR images of 32 boys with ASD and 45 typically developing (TD) boys. Large deformation diffeomorphic metric mapping (LDDMM) was used to assess between-group differences in basal ganglia shape and to examine associations with motor, praxis, and reciprocal social and communicative impairments in ASD. RESULTS: Boys with ASD showed changes in right basal ganglia shape as compared with TD boys; surface deformation was present in the caudate, putamen, and globus pallidus but did not stand up to correction for multiple comparisons. Brain-behavior correlation findings were more robust; analyses accounting for multiple comparisons revealed, in boys with ASD, surface inward deformation of the right posterior putamen predicted poorer motor skill, whereas surface inward deformation of the bilateral anterior and posterior putamen predicted poorer praxis. Surface outward deformation in the bilateral medial caudate head predicted greater reciprocal social and communicative impairment. CONCLUSIONS: Motor, social, and communicative impairments in boys with ASD are associated with shape abnormalities in the basal ganglia. The findings suggest abnormalities within parallel frontal-subcortical circuits are differentially associated with impaired acquisition of motor and reciprocal social and communicative skills in ASD.
9. Spence SJ, Thurm A. {{Testing autism interventions: trials and tribulations}}. {Lancet} (May 20)
10. Valdovinos MG, Bailey L, Taylor SL. {{Examining risperidone use in those diagnosed with autism 1 year after FDA approval}}. {J Clin Psychiatry} (May);71(5):651-652.
