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1. Bakare MO, Agomoh AO, Ebigbo PO, Eaton J, Okonkwo KO, Onwukwe JU, Onyeama GM. {{Etiological explanation, treatability and preventability of childhood autism: a survey of Nigerian healthcare workers’ opinion}}. {Ann Gen Psychiatry};2009 (Feb 12);8(1):6.
ABSTRACT: BACKGROUND: Because of their peculiar sociocultural background, healthcare workers in sub-Saharan African subcultures may have various conceptions on different aspects of autism spectrum disorders (ASD), such as etiology, treatment and issues of prognosis. These various conceptions, if different from current knowledge in literature about ASD, may negatively influence help-seeking behavior of parents of children with ASD who seek advice and information from the healthcare workers. This study assessed the opinions of healthcare workers in Nigeria on aspects of etiology, treatability and preventability of childhood autism, and relates their opinions to the sociodemographic variables. METHODS: Healthcare workers working in four tertiary healthcare facilities located in the south-east and south-south regions of Nigeria were interviewed with a sociodemographic questionnaire, personal opinion on etiology, treatability and preventability of childhood autism (POETPCA) questionnaire and knowledge about childhood autism among health workers (KCAHW) questionnaire to assess their knowledge and opinions on various aspects of childhood autism. RESULTS: A total of 134 healthcare workers participated in the study. In all, 78 (58.2%), 19 (14.2%) and 36 (26.9%) of the healthcare workers were of the opinion that the etiology of childhood autism can be explained by natural, preternatural and supernatural causes, respectively. One (0.7%) of the healthcare workers was unsure of the explanation of the etiology. Knowledge about childhood autism as measured by scores on the KCAHW questionnaire was the only factor significantly associated with the opinions of the healthcare workers on etiology of childhood autism. In all, 73 (54.5%) and 43 (32.1%), of the healthcare workers subscribed to the opinion that childhood autism is treatable and preventable respectively. Previous involvement with managing children with ASD significantly influenced the opinion of the healthcare workers in subscribing to treatability of childhood autism, while working experience of less than 6 years among the healthcare workers significantly influenced the opinion of the healthcare workers in admitting to believing in the preventability of childhood autism. CONCLUSIONS: In designing policies and programs to change negative opinions or beliefs of healthcare workers about childhood autism, there is a need for baseline information such as this survey. Changing the negative opinions or beliefs of the healthcare workers about childhood autism should encourage appropriate help-seeking behavior among parents of children with ASD who may be seeking advice or information from the healthcare workers. This would encourage early interventions, which are essential to prognosis of childhood autism.
2. Bakare MO, Ebigbo PO, Agomoh AO, Eaton J, Onyeama GM, Okonkwo KO, Onwukwe JU, Igwe MN, Orovwigho AO, Aguocha CM. {{Knowledge about childhood autism and opinion among healthcare workers on availability of facilities and law caring for the needs and rights of children with childhood autism and other developmental disorders in Nigeria}}. {BMC Pediatr};2009 (Feb 12);9(1):12.
ABSTRACT: BACKGROUND: In designing programs to raise the community level of awareness about childhood autism in sub-Saharan Africa, it is logical to use the primary healthcare workers as contact point for education of the general public. Tertiary healthcare workers could play the role of trainers on childhood autism at primary healthcare level. Assessing their baseline knowledge about childhood autism to detect areas of knowledge gap is an essential ingredient in starting off such programs that would be aimed at early diagnosis and interventions. Knowledge of the healthcare workers on availability of facilities and law that would promote the required interventions is also important. This study assessed the baseline knowledge about childhood autism and opinion among Nigerian healthcare workers on availability of facilities and law caring for the needs and rights of children with childhood autism and other developmental disorders. METHOD: A total of one hundred and thirty four (134) consented healthcare workers working in tertiary healthcare facilities located in south east and south-south regions of Nigeria were interviewed with Socio-demographic, Knowledge about Childhood Autism among Health Workers (KCAHW) and Opinion on availability of Facilities and Law caring for the needs and rights of children with Childhood Autism and other developmental disorders (OFLCA) questionnaires. RESULTS: The total mean score of participated healthcare workers on KCAHW questionnaire was 12.35 +/- 4.40 out of a total score of 19 possible. Knowledge gap was found to be higher in domain 3 (symptoms of obsessive and repetitive pattern of behavior), followed by domains 1 (symptoms of impairments in social interaction), 4 (type of disorder autism is and associated co-morbidity) and 2 (symptoms of communication impairments) of KCAHW respectively among the healthcare workers. Knowledge about childhood autism (KCA) as measured by scores on KCAHW questionnaire was significantly associated with age group distribution of the healthcare workers, with those age group of fourth decades and above more likely to have higher mean score (p = 0.004) and previous experience of managing children with autism spectrum disorders (ASD) (p = 0.000). KCA showed near significant association with area of specialty, with those healthcare workers in psychiatry compared to pediatrics having higher mean score (p = 0.071) and also with years of working experience of the healthcare workers (p = 0.056). More than half of the healthcare workers subscribed to the opinion that facilities and law caring for the needs and rights of children with childhood autism and other developmental disorders are lacking in Nigeria. CONCLUSIONS: The correlates of KCA may help in selection of those tertiary healthcare workers that would best fit the role of trainers. It is important to update the knowledge gaps of those healthcare workers who scored low in different domains of KCAHW questionnaire. It is imperative for policy makers in Nigeria to advocate and implement multidisciplinary healthcare service system that would ensure early diagnosis and interventions. Nationally representative baseline epidemiological data that would guide policy and planning are also desirable.
3. Bayou N, M’Rad R, Ahlem B, Bechir Helayem M, Chaabouni H. {{Autism: an overview of genetic aetiology}}. {Tunis Med};2008 (Jun);86(6):573-578.
Autism is a pervasive developmental disorder characterised by impairment in social interaction and in communication, with unusual behaviour. Genetic factors are predominant in autism pathogenesis. Interactions between multiple genes cause « idiopathic » autism but epigenetic factors and exposure to environmental modifiers may contribute to variable expression of autism-related traits. The genetic polymorphism and the phenotypic heterogeneity make the autism a complex disorder to study. Genetic research on families with multiple affected children and biochemical mechanisms studies represent the sources for identifying the susceptibility genes in autism. Children with dysmorphic features, congenital anomalies, mental retardation, or family members with developmental disorders are those most likely to benefit from extensive medical testing and genetic consultation.
4. de Jonge M, Kemner C, Naber F, van Engeland H. Block design reconstruction skills: not a good candidate for an endophenotypic marker in autism research. Eur Child Adolesc Psychiatry;2009 (Feb 16)
5. Gadow KD, Devincent CJ, Schneider J. {{Comparative Study of Children With ADHD Only, Autism Spectrum Disorder + ADHD, and Chronic Multiple Tic Disorder + ADHD}}. {J Atten Disord};2009 (Mar);12(5):474-485.
Objective: Identification of differences among children with ADHD only, autism spectrum disorder (ASD)+ADHD, and chronic multiple tic disorder (CMTD)+ADHD may lead to better understanding of clinical phenotypes. Method: Children were evaluated using the parent- and teacher-completed questionnaires. Results: All three groups were highly similar in severity of oppositional defiant disorder and conduct disorder symptoms; however, the ASD+ADHD group generally exhibited the most severe anxiety, although the CMTD+ADHD group had the most severe generalized anxiety. The two comorbid groups had the most involved medical histories and the greatest likelihood of a family history of psychopathology. Conclusion: Groups differed in clinically meaningful ways, and the apparent association between tics and anxiety may explain in part the elevated levels of anxiety in both comorbid groups. Collectively, results suggest that ADHD may be better conceptualized as a family of interrelated syndromes defined in part by comorbid conditions and that continued research is clearly warranted. (J. of Att. Dis. 2009; 12(5) 474-485).
6. Hranilovic D, Bujas-Petkovic Z, Tomicic M, Bordukalo-Niksic T, Blazevic S, Cicin-Sain L. {{Hyperserotonemia in autism: activity of 5HT-associated platelet proteins}}. {J Neural Transm};2009 (Feb 17)
Disturbances in serotonin (5HT) neurotransmission have been indicated as biological substrates in several neuropsychiatric disorders including autism. Blood 5HT concentrations, elevated in about one-third of autistic subjects, are regulated through the action of peripheral 5HT-associated proteins. We have measured the activity of two platelet 5HT-associated proteins: 5HT transporter (5HTT) and monoamine oxidase B (MAOB), and indirectly studied the activity of 5HT(2A) receptor (5HT(2A)r) in 15 hyperserotonemic (HS) and 17 normoserotonemic (NS) autistic subjects, and 15 healthy controls (C). While mean velocities of 5HTT kinetics did not significantly differ among the groups, significant elevation in the mean velocity of MAOB kinetics was observed in NS subjects and was even more pronounced in HS subjects in comparison to controls. Also, a decrease in adenosine 5′-diphosphate-induced platelet aggregation of borderline significance was observed in NS subjects, compared to C subjects. The results suggest a possibility of upregulation of monoaminergic synthesis/degradation and, probably consequential, downregulation of 5HT(2A)r in autistic subjects.
7. Larimore JL, Chapleau CA, Kudo S, Theibert A, Percy AK, Pozzo-Miller L. {{Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations}}. {Neurobiol Dis};2009 (Jan 3)
The expression of the methylated DNA-binding protein MeCP2 increases during neuronal development, which suggests that this epigenetic factor is crucial for neuronal terminal differentiation. We evaluated dendritic and axonal development in embryonic day-18 hippocampal neurons in culture by measuring total length and counting branch point numbers at 4 days in vitro, well before synapse formation. Pyramidal neurons transfected with a plasmid encoding a small hairpin RNA (shRNA) to knockdown endogenous Mecp2 had shorter dendrites than control untransfected neurons, without detectable changes in axonal morphology. On the other hand, overexpression of wildtype (wt) human MECP2 increased dendritic branching, in addition to axonal branching and length. Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length. One of the targets of MeCP2 transcriptional control is the Bdnf gene. Indeed, endogenous Mecp2 knockdown increased the intracellular levels of BDNF protein compared to untransfected neurons, suggesting that MeCP2 represses Bdnf transcription. Surprisingly, overexpression of wt MECP2 also increased BDNF levels, while overexpression of RTT-associated MECP2 mutants failed to affect BDNF levels. The extracellular BDNF scavenger TrkB-Fc prevented dendritic overgrowth in wt MECP2-overexpressing neurons, while overexpression of the Bdnf gene reverted the dendritic atrophy caused by Mecp2-knockdown. However, this effect was only partial, since Bdnf increased dendritic length only to control levels in mutant MECP2-overexpressing neurons, but not as much as in Bdnf-transfected cells. Our results demonstrate that MeCP2 plays varied roles in dendritic and axonal development during neuronal terminal differentiation, and that some of these effects are mediated by autocrine actions of BDNF.
8. Rapoport J, Chavez A, Greenstein D, Addington A, Gogtay N. {{Autism Spectrum Disorders and Childhood-Onset Schizophrenia: Clinical and Biological Contributions to a Relation Revisited}}. {J Am Acad Child Adolesc Psychiatry};2009 (Jan);48(1):10-18.
OBJECTIVE:: To highlight emerging evidence for clinical and biological links between autism/pervasive developmental disorder (PDD) and schizophrenia, with particular attention to childhood-onset schizophrenia (COS). METHOD:: Clinical, demographic, and brain developmental data from the National Institute of Mental Health (and other) COS studies and selected family, imaging, and genetic data from studies of autism, PDD, and schizophrenia were reviewed. RESULTS:: In the two large studies that have examined this systematically, COS is preceded by and comorbid with PDD in 30% to 50% of cases. Epidemiological and family studies find association between the disorders. Both disorders have evidence of accelerated trajectories of anatomic brain development at ages near disorder onset. A growing number of risk genes and/or rare small chromosomal variants (microdeletions or duplications) are shared by schizophrenia and autism. CONCLUSIONS:: Biological risk does not closely follow DSM phenotypes, and core neurobiological processes are likely common for subsets of these two heterogeneous clinical groups. Long-term prospective follow-up of autistic populations and greater diagnostic distinction between schizophrenia spectrum and autism spectrum disorders in adult relatives are needed.
9. Spence SJ, Schneider MT. {{The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum Disorders}}. {Pediatr Res};2009 (Feb 11)
Autism is a neurodevelopmental disorder of unknown etiology characterized by social and communication deficits and the presence of restricted interests/repetitive behaviors. Higher rates of epilepsy have long been reported, but prevalence estimates vary from as little as 5% to as much as 46%. This variation is probably the result of sample characteristics that increase epilepsy risk such as sample ascertainment, lower IQ, the inclusion of patients with non-idiopathic autism, age, and gender. However, critical review of the literature reveals that the rate in idiopathic cases with normal IQ is still significantly above the population risk suggesting that autism itself is associated with an increased risk of epilepsy. Recently there has been interest in the occurrence of epileptiform electroencephalograms (EEGs) even in the absence of epilepsy. Rates as high as 60% have been reported and some investigators propose that these abnormalities may play a causal role in the autism phenotype. While this phenomenon is still not well understood and risk factors have yet to be determined, the treatment implications are increasingly important. We review the recent literature to elucidate possible risk factors for both epilepsy and epileptiform EEGs. We then review existing data and discuss controversies surrounding treatment of EEG abnormalities.
