1. Bernier R, Mao A, Yen J. {{Psychopathology, families, and culture: autism}}. {Child Adolesc Psychiatr Clin N Am};2010 (Oct);19(4):855-867.
Autism spectrum disorders (ASDs) are now considered to be the most common of the developmental disorders, although the effect of cultural influences on the diagnosis and treatment of ASDs has received limited attention. The existing literature on this topic suggests that both macro-level and microlevel cultural factors can affect the characterization, diagnosis, and treatment of ASDs. As a result, it is important for clinicians to consider cultural factors throughout the diagnostic, treatment planning, and intervention implementation processes. In this article, cultural influences on the prevalence of autism and the diagnostic and treatment processes are reviewed and synthesized through a consideration of the developmental context and through clinical practice suggestions.
2. Costello E, Blenner S, Augustyn M. {{« Different Is Nice, but It Sure Isn’t Easy »: Differentiating the Spectrum of Autism from the Spectrum of Normalcy}}. {J Dev Behav Pediatr};2010 (Nov-Dec);31(9):720-722.
CASE:: Brian is a 15-year-old boy who has been just changed to your practice because of a change in insurance plans. When taking the social history, his parents note that he has « the hardest time relating to other kids. » Sometimes he will be in the middle of a conversation with a friend and then discuss tangential topics. His father reports that Brian « …has always been an easy target. He has always been sort of bigger than other kids, but being bigger than other kids, he has a hard time standing up for himself. » He seems to expect to be picked on in any new social situation.When Brian likes something, he really goes after it with a passion; for example, he is very interested in knowing all about the dynasties in China. His interests are dinosaurs and anime. He is described as « An all-or-nothing type kid » when it comes to his interests. If his father tries to explain to Brian why he would like something done in a particular way, Brian will explode, and at times, he has even tried to shove his father.He does not really have any friends. His mother finds it hard knowing that Brian cannot make friends because he « is the sweetest kid you will ever meet. » Brian sometimes thinks he needs to master things right away. He is not very good at abstract thinking, and « he can’t think outside of the box. » Eye contact has always been something that has been difficult for Brian as well. He can sit in front of the TV watching a show and repeat the entire series word for word.His parents initially had concerns about Brian, when he was 3 or 4 years old. After a specialty evaluation, he was diagnosed with sensory integration disorder and attention-deficit hyperactivity disorder. He is currently starting the 10th grade this year.Brian was born at 9 months, weighing 7 pounds 10 ounces. There were no complications. He was treated with stimulants for attention-deficit hyperactivity disorder in the past, and he is currently on a long-acting amphetamine with equivocal efficacy. The parents are primarily here to refill his medication, but you wonder about their understanding about Brian’s condition and where to head next during this visit.
3. Gallagher CM, Goodman MS. {{Hepatitis B Vaccination of Male Neonates and Autism Diagnosis, NHIS 1997-2002}}. {J Toxicol Environ Health A};2010 (Jan);73(24):1665-1677.
Universal hepatitis B vaccination was recommended for U.S. newborns in 1991; however, safety findings are mixed. The association between hepatitis B vaccination of male neonates and parental report of autism diagnosis was determined. This cross-sectional study used weighted probability samples obtained from National Health Interview Survey 1997-2002 data sets. Vaccination status was determined from the vaccination record. Logistic regression was used to estimate the odds for autism diagnosis associated with neonatal hepatitis B vaccination among boys age 3-17 years, born before 1999, adjusted for race, maternal education, and two-parent household. Boys vaccinated as neonates had threefold greater odds for autism diagnosis compared to boys never vaccinated or vaccinated after the first month of life. Non-Hispanic white boys were 64% less likely to have autism diagnosis relative to nonwhite boys. Findings suggest that U.S. male neonates vaccinated with the hepatitis B vaccine prior to 1999 (from vaccination record) had a threefold higher risk for parental report of autism diagnosis compared to boys not vaccinated as neonates during that same time period. Nonwhite boys bore a greater risk.
4. Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. {{Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia}}. {Am J Hum Genet};2010 (Nov 3)
Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12, which harbors HNF1B, the gene responsible for renal cysts and diabetes syndrome (RCAD), in 18/15,749 patients, including several with ASD, but 0/4,519 controls. We identified additional shared phenotypic features among nine patients available for clinical assessment, including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. In a large follow-up sample, the same deletion was identified in 2/1,182 ASD/neurocognitive impairment and in 4/6,340 schizophrenia patients, but in 0/47,929 controls (corrected p = 7.37 x 10(-5)). These data demonstrate that deletion 17q12 is a recurrent, pathogenic CNV that confers a very high risk for ASD and schizophrenia and show that one or more of the 15 genes in the deleted interval is dosage sensitive and essential for normal brain development and function. In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only.
5. Read N, Schofield A. {{Autism: are mental health services failing children and parents?}}. {J Fam Health Care};2010;20(4):120-124.
Autism is not a menta illness but a neurodevelopmental disorder. However, the prevalence of mental health problems such as depression among children and young people with autism is high. One in 10 children and young people who use Child and Adolescent Mental Health Services (CAMHS) has autism. Recent research by The National Autistic Society (NAS) into the effectiveness of these services has revealed a serious lack of understanding and support, with some families reporting that they have had to wait for years to receive help. The research involved a survey of 455 parents of children and young people with autism, together with qualitative findings from parental and young people’s focus groups, a survey of CAMHS professionals and visits to CAMHS sites. Responses from parents, young people and professionals indicated that CAMHS did not have the knowledge or the skills to identify or treat mental health problems in children with autism.This can have profound consequences for the health and well-being of the whole family. Autism is a complex disability that can make it harder to diagnose concomitant mental health problems. It is a condition that can make it more difficult for professionals to develop successful, trusting relationships with children, and requires services to be adapted to the individual child. Mainstream interventions and treatments, if unadjusted, will usually fail to improve the mental health of a child with autism and may even make things worse.This article explores how CAMHS services might better meet the needs of children with autism and their families, including improvements in the transition to adult mental health services. In June 2010 NAS launched You Need to Know, a campaign calling on the Government to give priority to improving CAMHS services for children with autism and to support loca areas in delivering the changes that families and front-line professionals are calling for.
6. Wass S. {{Distortions and disconnections: Disrupted brain connectivity in autism}}. {Brain Cogn};2010 (Nov 3)
The past few years have seen considerable interest in findings of abnormal brain connectivity in the autism spectrum disorders (ASD). We review recent work from neuroimaging and other sources, and argue that there is considerable convergent evidence suggesting that connectivity is disrupted in ASD. We point to evidence both of local over-connectivity and of long-distance under-connectivity, and describe some non-uniformities in this picture, most notably that disruptions appear more severe in later-developing cortical regions. We conclude by discussing a number of extant questions. Firstly, we consider whether aberrant connectivity should be seen as part of the primary pathogenesis of autism, or whether disrupted connectivity in ASD emerges over time. Secondly, we consider how the patterns of disrupted connectivity found in ASD might relate to those being found in a range of other disorders.
7. Xiong N, Yang L, Yu Y, Hou J, Li J, Li Y, Liu H, Zhang Y, Jiao Z. {{Investigation of raising burden of children with autism, physical disability and mental disability in China}}. {Res Dev Disabil};2010 (Nov 3)
The family economic burden of raising autistic children, physical disabled children and mental disabled children were evaluated in China. 227 parents of children with autism, children with physical disability, children with mental disability and normal children were interviewed for children’s costs, family income and economic assistance, etc. The medical cost and caring cost of disabled children were significantly more than those of normal children, and the education cost, clothes cost and amusement cost of disabled children were significantly less than those of normal children. Family income was only predicted by parents’ education level. Families of disabled children received more economic assistance than families of normal children except families of autistic children. More children the family had, less economic assistance the family acquired. Compared with normal children, the raising burden of children with disabilities were as follows: children with autism (19582.4 RMB per year), children with physical disability (16410.1 RMB per year), children with mental disability (6391.0 RMB per year). Families of autistic children, physical disabled children and mental disabled children have heavier raising burden than families of normal children, they need more help from many aspects.
8. Young D, Bebbington A, de Klerk N, Bower C, Nagarajan L, Leonard H. {{The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population}}. {Res Autism Spectr Disord};2011 (Jan);5(1):442-449.
This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over six years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use (general practitioner and specialist visits and hospital stays) were summarized into composite scores with Principal Component Analysis. Linear and mixed regression models examined effects of mutation type and other variables on these scores over time. For some mutations (such as p.R255X, p.R168X) health status was poorer at a younger age and improved over time, while for p.R133C it was better at a younger age and deteriorated with time. For those with p.R133C health service use was lowest at a younger age and highest at 25 years. With other mutations, such as p.R255X, p.R270X, p.R294X, C terminal and p.R306C, health service use was higher at a younger age, but dropped off considerably by 25 years of age. Health service use generally declined in parallel with deterioration in health status, although this pattern differed by mutation type, demonstrating important variability in the course of Rett syndrome.
