Scientists Seek Early Indicators of Autism
(by Walter Lerchner, Ph.D.,
California Institute of Technology)

George Anderson, Ph.D., a member of the scientific advisory board of CAN and first author of a recent study conducted at Yale University, believes he may have found a promising new biological indicator by looking at the placenta, which is developed from the same cells as the fetus itself. After birth, the placenta can be examined without any intervention in the child or the mother.

Specific Behaviors Seen in Infants Can Predict Autism, New Research Shows
(Medical News Today)

Canadian researchers have become the first to pinpoint specific behavioral signs in infants as young as 12 months that can predict, with remarkable accuracy, whether a child will develop autism.

Autism Linked To Mirror Neuron Dysfunction
Findings May Lead to Early Diagnosis of the Disorder and Possible Therapies
(by Inga Kiderra, UCSD)

According to the new study, currently in press at the journal Cognitive Brain Research, electroencephalograph (EEG) recordings of 10 individuals with autism show a dysfunctional mirror neuron system: Their mirror neurons respond only to what they do and not to the doings of others.

Tilt test spots early Asperger's
(BBC News, UK Edition)

Parents can check whether their baby is likely to have a form of autism by doing a simple test of head movement, say US scientists.

Science getting to roots of autism
(by Kim Painter for USA Today)

....Although environmental factors clearly play a role, "autism is the most genetic of neuropsychiatric syndromes," more strongly linked to genes than schizophrenia or bipolar disorder, says Dan Geschwind, a genetics researcher at the University of California-Los Angeles. And now researchers are poised to learn which genes are involved in autism, how they work and how their effects might be blunted. It's all part of a new push for autism answers, fueled by new technology, new funding and, perhaps most important, a heightened public awareness of an increasingly diagnosed disorder.

Birth Defects Research Reaps Benefits From Years Of Data
(by Sandy Kleffman for the Contra Costa Times)

For more than two decades, researchers at the California Birth Defects Monitoring Program in Berkeley have been on a quest to get answers. The state has amassed a treasure-trove of clues -- blood samples taken from every child born in California since 1984, now totaling several million....From the beginning, they knew the real potential would emerge when science advanced to the point that genetic test could be done quickly and cost-effectively in large numbers. Now that day has arrived.

Pediatric Practices Intervention Program Significantly Improves Well-Child Care and Parental Satisfaction
(JAMA 2003;290:3081-3091)

Pediatric practices that participate in the Healthy Steps for Young Children Program, a large-scale practice intervention, showed significant improvements in effectively meeting the needs of the children and parents involved in their practice, as well as improvements in timeliness and efficiency of care.

Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder
(Psychiatr Genet. 2003 Dec;13(4):221-5)

Several genomewide scans identified multipoint LOD score peaks in region 7q32. In this region, UBE2H encodes an E2 enzyme of the ubiquitin-dependent proteolytic system. Mutations in another member of this system, the UBE3A gene, cause Angelman syndrome...Although further studies are required, these results suggest that the UBE2H gene could be one of the 7q-susceptibility loci for autistic disorder.

Brain Activity Abnormal in Children with Delayed Speech
(DG News)

Children with unusually delayed speech tend to listen with the right side of the brain rather than the left side of the brain, according to a study published in the December issue of the journal Radiology. Preliminary study results were presented at the Radiological Society of North America's (RSNA) Annual Meeting in 2002....“The overall ramifications of our early research augment the accepted importance of early intervention for children with language disorders,”....With fMRI, radiologists may be able to help diagnose, guide and monitor treatment of children with these complex disorder.

Autism Summit Conference: Developing a National Agenda
(TV Worldwide Webcast)

The landmark Autism Summit Conference was held on November 19 & 20, 2003 in Washington DC, sponsored by the U.S. Department of Health and Human Services and the U.S. Department of Education. The conference was organized into three themes: Services for Individuals with Autism Across the Lifespan, Early Screening and Diagnosis, and Biomedical Research.

Newborn Screening for Biochemical Genetic Disorders May Confer Benefits to Both Children and Parents
(DG News)

Children with biochemical genetic disorders identified by newborn screening have better health outcomes than do children identified clinically, and parents of the screened newborns report lower stress levels according to the initial findings of a prospective newborn screening study. Reported in Journal of the American Medical Association (JAMA).

Study offers new insight into Rett Syndrome
(Eurekalert)

Rett Syndrome is a major cause of mental retardation in girls. Although researchers have identified the protein involved in the disease, its exact role remains a mystery. Now, a group of researchers from Children's Hospital Boston and Whitehead Institute of Biomedical Research have identified the protein's function, a discovery the scientists say could be the first significant advance in Rett Syndrome research in years.

Cerebral Palsy Tied to Birthweight
(by Ed Edelson for Dr. Koop.com)

Infants with a birthweight below the 10th percentile or above the 97th percentile are at increased risk for cerebral palsy, according to a report published in the October 4th issue of The Lancet.

Can early interventions alter the course of autism?
(Novartis Found Symp. 2003;251:250-9; discussion 260-5, 281-97, Howlin P. )

Interventions for autism have come a long way since the condition was described by Kanner in the 1940s...The paper discusses findings from follow-up studies over the years and assess the impact of different intervention procedures on outcome.

Early intervention and brain plasticity in autism
(Novartis Found Symp. 2003;251:266-74; discussion 274-80, 281-97, Dawson G, Zanolli K )

Autism is associated with impairments in brain systems that come on line very early in life. One such system supports the development of face processing. Dawson and colleagues found that 3 year old children with autism failed to show differential event-related potentials (ERPs) to photographs of their mother's versus a stranger's face. Since differential ERP activity to familiar and unfamiliar faces is typically present by 6 months, this represents early brain dysfunction....Early interventions that enhance social attention should result in changes in brain activity, as reflected in ERPs to face stimuli, with those children showing the greatest social improvement exhibiting more normal brain activity.

Indolyl-3-acryloylglycine (IAG) is a putative diagnostic urinary marker for autism spectrum disorders
(Med Sci Monit. 2003 Oct;9(10):CR422-5, Bull, Shattock, et al.)

There are indications that the incidence of the disease is rising but still no definitive diagnostic biochemical markers have been isolated. Here we have addressed the hypothesis that urinary levels of trans -indolyl-3-acryloylglycine (IAG) are abnormal in patients diagnosed with autism spectrum disorders (ASD) compared to age-matched controls...Our results strongly suggest that urinary titres of IAG may constitute an objective diagnostic indicator for ASD. Mechanisms for the involvement of IAG in ASD are discussed together with future strategies to address its specificity.

Analysis of reelin as a candidate gene for autism
(Mol Psychiatry. 2003 Oct;8(10):885-92)

Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify relevant gene(s) and report here the analysis of reelin (RELN), a gene located under our peak of linkage. ...The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.

Developmental Outcomes of Premature, Low Birth Weight and Medically Fragile Infants
(Newborn & Infant Nursing Reviews, 2003, Volume 3, Number 3 by Maureen Kessenich, MA)

Technological advances and improved newborn and infant care have resulted in better survival rates of newborn intensive care graduates. This change in health status does come with a price—long-term consequences after discharge home. As newborn and infant nurses, we need to be more aware of the possible developmental outcomes of premature, low birth weight, and medically fragile infants. This article presents a review of literature on these outcomes with special emphasis in the areas of cognition and learning.

Early Intervention Helps Spec. Ed. Students, Report Says
(Education Week, by Lisa Goldstein)

Children with disabilities who receive early-intervention services show "significant" developmental improvement after only one year, according to the Department of Education's 24th annual report to Congress on the progress of special education.

Welcome Progress in the Diagnosis and Treatment of ADHD in Adolescence
(Contemporary Pediatrics, 2003, Volume 20, Number 8, by Mark A. Stein, PhD, Martin Baren, MD)

The prognosis for teenagers with ADHD is better than ever, thanks to more effective therapies and greater understanding of how the disorder manifests itself in adolescence. Successful management hinges on an appropriate medication regimen combined with academic and behavioral interventions.

Language and auditory processing in autism
(Trends Cogn Sci. 2003 Sep;7(9):378-380, Siegal M, Blades M.)

Autism is characterized by varying degrees of disorders in language, communication and imagination. What are the prospects for making sense of this heterogeneous condition? Advances in identifying phenotypes in relation to subgroups within autism, based on disproportionate language impairment, have been recently reported by Tager-Flusberg and Joseph. The symptom severity of these subgroups requires investigation for underlying deficits, such as in auditory processing. Other recent reports support the view that a deficit in auditory processing might be a key factor in autism.

Evidence of Brain Overgrowth in the First Year of Life in Autism
(JAMA 2003, 290:337-344, Courchesne et al.)

...Researchers believe a simple measurement, done during a pediatric checkup may provide an earlier indication of autism.

A systems neuroscience approach to autism: biological, cognitive, and clinical perspectives
(Ment Retard Dev Disabil Res Rev. 2003;9(3):205-15, Eigsti IM, Shapiro T.)

Autism is a behaviorally defined disorder characterized by a broad constellation of symptoms. Numerous studies directed to the biological substrate demonstrate clear effects of neurodevelopmental differences that will likely point to the etiology, course, and long-term outcomes of the disorder. Consistently replicated research on the neural underpinnings of autism is reviewed. In general, results suggest several main conclusions....The large number of active research programs investigating the cognitive neuroscience of autism spectrum disorders, in combination with the exciting development of new methodologies and tools in this area, indicates the drama and excitement of work in this area.

New Survey Reveals Common Misperceptions of Bipolar Disorder May Lead to Misdiagnosis in Children
(Child and Adolescent Bipolar Foundation)

Aiming to gain a better understanding of the public's perceptions of bipolar disorder (manic-depression), a recent survey revealed that only 11 percent of adults believe the illness can occur at any age and only 40 percent believe it is hereditary -- two common misperceptions that may lead to misdiagnosis in children.

Autism: New frontiers in research and drug discovery
(Academy e-briefing of the New York Academy of Sciences, based on a mini-symposium by Peter H. Bell, McNeil Consumer & Specialty Pharmaceuticals and Doug S. Compton, Cure Autism Now Foundation)

Autism now diagnosed early: Therapy for toddlers makes 'huge difference'
(Special for USA TODAY, by Kim Painter)

...Because the exact nature of ASD can be hard to pinpoint in young children, many doctors have been reluctant to label toddlers. Studies suggest the average age of diagnosis in the USA has been about 3,...But that seems to be changing. One reason is that parents and pediatricians are becoming more aware of autism. At the same time, researchers are learning more about the earliest signs and gaining confidence in the value of early, intense therapies that systematically teach children everything from eye contact to play skills to conversational techniques.

Toxic metal clue to autism
(Exclusive from New Scientist, by Richard Lathe and Michael Le Page)

A study of mercury levels in the baby hair of children who were later diagnosed with autism has produced startling results. The babies had far lower levels of mercury in their hair than other infants, leading to speculation that autistic children either do not absorb mercury or, more likely, cannot excrete it.

Brief report: cognitive correlates of enlarged head circumference in children with autism
(J Autism Dev Disord. 2003 Apr;33(2):209-15. Deutsch CK, Joseph RM)

This study examined the frequency and cognitive correlates of enlarged head circumference in a sample of 63 children with autism between the ages of 4 and 14. Consistent with prior evidence, macrocephaly occurred at a significantly higher frequency than in a normal reference sample....This convergence of physical and cognitive features suggests a possible etiologically significant subtype of autism.

How well does early diagnosis of autism stand the test of time? Follow-up study of children assessed for autism at age 2 and development of an early diagnostic service
(Autism. 2003 Mar;7(1):47-63, Moore V, Goodson S)

Twenty children who presented with severe and communication difficulties at age 2 underwent a comprehensive assessment for autism, and were reassessed at age 4-5....The finding that early diagnosis of autism is reliable and stable has led to the development of an early diagnostic service in Southampton, which is described. The importance of early diagnosis is that it opens the door to early intervention programmes, which in turn prevent many problems from occurring in later life.

Identifying neurocognitive phenotypes in autism
(Philos Trans R Soc Lond B Biol Sci. 2003 Feb 28;358(1430):303-14, Tager-Flusberg H, Joseph RM)

The search for genes associated with autism and the neurobiological mechanisms that underlie its behavioural symptoms has been hampered by this heterogeneity. Recent studies indicate that within autism, there may be distinct subgroups that can be defined based on differences in neurocognitive profiles. This paper presents evidence for two kinds of subtypes in autism that are defined on the basis of language profiles and on the basis of cognitive profiles. The implications for genetic and neurobiological studies of these subgroups are discussed, with special reference to evidence relating these cognitive phenotypes to volumetric studies of brain size and organization in autism.

Gene Linked to Autism: A Newsmaker Interview With Margaret Pericak-Vance, PhD
(Vaccination News by Laurie Barclay, MD)

Researchers have identified at least one gene that may be responsible for autism, according to a report in the March issue of the American Journal of Human Genetics. Using a new statistical method combined with careful observational classification, investigators have determined that a gene on chromosome 15 coding for the gamma-aminobutyric acid (GABA) receptor beta3-subunit (GABRB3) is involved in a distinctive autistic symptom of "insistence on sameness" (IS).

The causes of autism spectrum disorders: Multiple factors have been identified, but a unifying cascade of events is still elusive
(Editorial, BMJ 2003;326:173-174 (25 January )

Our understanding of the clinical picture of autism has changed dramatically over the past decade thanks to a much greater appreciation of the possible range of behaviours seen at different ages and degrees of functioning. Another key change has been the appreciation that several closely related "disorders" exist that share these same essential features but differ on specific symptoms, age of onset, or natural history...Along with these changes in taxonomy has been a greater understanding of the causes of autism, although, admittedly, the picture of the cascade of structural and biochemical events that culminate in the disorder is still not clear.

The Autistic Spectrum: Subgroups, Boundaries, And Treatment.
(Psychiatr Clin North Am 2002 Dec; 25 (4): 811-36 by Willemsen-Swinkels SH, Buitelaar JK. Department of Child and Adolescent Psychiatry, University Medical Center, PO Box 85500, 3508 GA Utrecht, The Netherlands. s.h.n.willemsen@psych.azu.nl)

“Important controversies regarding the precise definitions of autistic spectrum disorders and the boundaries between the milder manifestations of those disorders, particularly PDD-NOS, and non-autistic conditions have not been and cannot be resolved fully as long as there is no known biologic cause or consistent biologic or psychological marker...This is why the highest long-term priority in the area of definite diagnosis is the search for biologic marker(s) for autism and related autism spectrum disorders.”

Race Differences in the Age at Diagnosis Among Medicaid-Eligible Children With Autism
(Available through PubMed ID# 12447031 by Mandell DS, Listerud J, Levy SE, Pinto-Martin JA)

“Objective: To examine racial differences in the age at which Medicaid-eligible children first receive an autistic disorder (AD) diagnosis and to examine time in mental health treatment until an AD diagnosis was received”.

Increase in Autism Baffles Scientists
(New York Times article by Sandra Blakeslee)

“Trying to account for a drastic rise in childhood autism in recent years, a California study has found that it cannot be explained away by statistical anomalies or by a growing public awareness that might have led more parents to report the disorder.”

Descriptive epidemiology of autism in a California population: who is at risk?
(Croen LA, Grether JK, Selvin S., J Autism Dev Disord 2002 Jun;32(3):217-24)

We investigated the association between selected infant and maternal characteristics and autism risk. Children with autism born in California in 1989-1994 were identified through service agency records and compared with the total population of California live births for selected characteristics recorded on the birth certificate...Risk increased as maternal age and maternal education increased.

Major Stress During Pregnancy Linked to Autism
(Ohio State Research News)

“Women who have had a major stressful event - death of a spouse, job loss, or a long-distance move - midway through their pregnancy may have a greater chance of having an autistic child than do their unstressed counterparts say researchers at The Ohio State University Medical Center.”

First Language Gene Discovered
(BBC News)

“British scientists say they’ve discovered the first gene tied to a language and speech disorder, raising hopes that the genetics revolution is closer to identifying the biological roots of conscious thought and, perhaps, refining what it means to be human.”

Nicotine Receptors May Play Role In Development of Autism
(Psychiatric News)

Cholinergic nicotinic receptors, which have become a hot area for brain researchers, are linked to yet another psychiatric-neurological disorder—autism.

Imitation, mirror neurons and autism
(Williams J. H et al. (2001). Imitation, mirror neurons and autism. Neuroscience Biobehavioral Review, 25:287-295)

“Are mirror neurons the key to understanding the central deficit in childhood autism? A new paper from Justin Williams and colleagues makes a persuasive case for such a connection, with imitation as the crucial cognitive ability that ties the two together.”

Brain Gene Implicated In Autism
(NIH Press Release)

“Scientists funded by the National Institute of Mental Health have linked a gene that may influence human brain development with autism susceptibility. They pinpointed the candidate gene, WNT2 in a region of chromosome 7.”

New Research Suggests Cause of Autism
(PR Newswire)

" -- Autism -- a poorly understood genetic disorder present in more than a half million Americans -- may be caused by a defect in metal metabolism."

Metal-Metabolism and Autism
(Pfeiffer Treatment Center, presented by William Walsh, Ph.D. and Anjum Usman, M.D. at the American Psychiatric Association Annual Meeting, May 10, 2001 in New Orleans)

Neuropeptides and Neurotrophins in Neonatal Blood of Children with Autism or Mental Retardation
( Reference: Nelson, K. B.; Grether, J. K.; Croen, L. A.; Dambrosia, J. M.; Dickens, B. F.; Jelliffe, L. L.; Hansen, R. L.; Phillips, T. M., Annals of Neurology, May 2001, Vol. 49[5], 597-606.)

NGF Proteins Present At Birth Linked To Later Autism

“A new study shows that elevated concentrations of proteins present at birth in the blood may be associated with the development of autism and mental retardation later in childhood...”

Gene Links Autism to Bipolar Disorder & Schizophrenia, Offers Hope for Treatment
(NAAR News List)

“In a surprise finding from an international research team led by researchers at the Campus BioMedico University in Rome, Italy, Drs. Flavio Keller and Antonio Persico announced the discovery of a gene that may increase the risk of a child's developing autism three-fold. The gene, which produces the protein reelin, has recently been associated with bipolar disorder and schizophrenia….”

Blood Markers Associated with Autism and Mental Retardation, press release by the National Institute of Neurological Disorders and Stroke (NINDS).

“Neural growth factors are important to the formation of the central nervous system during embryonic development… The investigators hypothesize that an abnormal abundance of these proteins may disrupt the normal process of cell migration, differentiation, and programmed death during early nervous system development. …The investigators speculate that a breakdown in the regulation of factors that influence early brain development is important in autism and mental retardation. Since these disorders cannot be clinically diagnosed until later in childhood, the identification of molecular markers could be helpful in the early diagnosis of the disorders and in the design of future clinical studies to test therapies.”

Promising New Research on Schizophrenia Causes
(UIC News Tips—University of Illinois at Chicago)

Erminio Costa, a member of the National Academy of Sciences and scientific director of UIC's Psychiatric Institute, is studying a chemical found in the brain called reelin.

Head circumference is an independent clinical finding associated with autism
(Am J Med Genet. 2000 Dec 11;95(4):339-50, Miles JH, Hadden LL, Takahashi TN, Hillman RE)

Occipitofrontal circumference (OFC) is one of the few physical findings in autism that varies significantly from the norm and is distinct and measurable. As part of a study of genetic heterogeneity of autism, we scrutinized data from a large sample of patients with idiopathic autism (N = 137), using OFC as the categorizing variable...Macrocephaly was highly familial with 45% of the macrocephalic and 37% of the normocephalic propositi having at least one macrocephalic parent. Microcephaly, however, was an independent significant variable that predicted the presence of other phenotypic or genetic traits and outcome.

Study Points To Chromosome Site Of Autism Gene
(Science Daily)

Researchers at the University of North Carolina at Chapel Hill and collaborating institutions are reporting evidence for a possible gene on chromosome 13 that causes autism. The group's report will be published December 15 in the American Journal of Medical Genetics.

Study points to chromosome site of autism gene
(University of North Carolina-Chapel Hill School of Medicine)

“Researchers at the University of North Carolina at Chapel Hill and collaborating institutions are reporting evidence for a possible gene on chromosome 13 that causes autism. The group's report will be published December 15 in the American Journal of Medical Genetics….”

Microcephaly and macrocephaly in autism
(J Autism Dev Disord. 1999 Apr;29(2):113-9, Fombonne E, Roge B, Claverie J, Courty S, Fremolle J)

Data from a series of 126 autistic children ages 2-16 years and referred to an Autism Diagnosis Unit in South-West France were examined. Macrocephaly (head circumference > 97th centile) was observed in 16.7% of the sample, a significantly higher proportion than that expected....It is argued that the raised incidence of microcephaly among low-functioning autistic subjects with medical disorders might have contributed to delay the recognition of an increased head circumference among a minority of subjects with idiopathic autism.

Is megalencephaly specific to autism?
(J Intellect Disabil Res, 1999 Aug;43 ( Pt 4):279-82, Ghaziuddin M, Zaccagnini J, Tsai L, Elardo S)

Several recent reports have described the presence of increased head circumference (megalencephaly) in patients with autism. Although some studies have described reports of megalencephaly in other disorders such as schizophrenia in adults, few such studies have been performed in children and adolescents. In the present study, the authors compared 20 subjects with autism/ pervasive developmental disorder (DSM-IV; all males; mean age = 10.9 years) with 20 controls with attention deficit hyperactivity disorder (DSM-IV; all males; mean age = 11.1 years).

Movement analysis in infancy may be useful for early diagnosis of autism
(Teitelbaum et al, published in Proceedings of the National Academy of Sciences of the United States of America, 1998 (Nov); 95:13982-13987

Movement and Relationship in Autism
(AUTCOM—article describes the Infant Movement Studies of Philip Teitelbaum, Ph.D., among other topics)

“Dr. Philip Teitelbaum, Professor in the Department of Psychology at the University of Florida at Gainesville and an eminent member of the National Academy of Sciences, has now come forward to fill that gap in our ability to describe the components of movement in autism. Working with his colleague, Autism National Committee Board Member Ralph Maurer, MD, Dr. Teitelbaum has viewed enough tapes of children with autism to convince himself that movement problems are present and deserving of further study.”

Macrocephaly in children and adults with autism
(J Am Acad Child Adolesc Psychiatry. 1997 Feb;36(2):282-90, Lainhart JE, Piven J, Wzorek M, Landa R, Santangelo SL, Coon H, Folstein SE)

Macrocephaly is common in autism and usually is not present at birth. Rates of head growth may be abnormal in early and middle childhood in some (37%) children with autism. Macrocephaly does not define a homogeneous subgroup of autistic individuals according to clinical features.