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February 15, 2002        News Archive Search  www.feat.org/search/news.asp

 

RESEARCH

·        Symptom Domains In Autism And Related Conditions: Evidence For Familiality.

·        Association Studies of the HOPA Dodecamer Duplication Variant

·        Lack of Association Between HoxA1 and HoxB1 Gene Variants And

·        Autism In Y chromosome Haplogroups In Autistic Subjects.

·        Pilot Assessment Of The Subtelomeric Regions Of Children With Autism:

·        No Association Between The Wnt2 Gene And Autistic Disorder.

·        Minicolumnar Pathology In Autism.

 

PUBLIC HEALTH

·        Lawmakers Seek Reforms in Vaccine Injury Compensation Program

·        Reader’s Posts

 

 

Symptom Domains In Autism And Related Conditions: Evidence For Familiality.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui ds=11840508&dopt=Abstract <- - address ends here.  Silverman JM, Smith CJ, Schmeidler J, Hollander E, Lawlor BA, Fitzgerald M, Buxbaum JD, Delaney K, Galvin P.

Department of Psychiatry, Mount Sinai School of Medicine, New York, New York.

Heterogeneity in autism impairs efforts to localize and identify the genes underlying this disorder. As autism comprises severe but variable deficits and traits in three symptom domains (social interaction, communication, and repetitive behaviors) and shows variability in the presence and emergence of useful phrase speech, different genetic factors may be associated with each.

The affected cases (n[?]=[?]457) in multiply affected siblingships (n[?]=[?]212), including a proband with autism and one or more siblings with either autism or marked deficits in autism symptom domains, were assessed using the Autism Diagnostic Interview, Revised. Symptom domain scores and language features were examined to determine their similarity within siblingships. The variance within siblingships was reduced for the repetitive behavior domain and for delays in and the presence of useful phrase speech.

These features and the nonverbal communication subdomain provided evidence of familiality when we considered only the diagnosis of autism to define multiply affected siblingships (cases: n[?]=[?]289; siblingships: n[?]=[?]136). In addition, the same familial features identified also appeared familial for those with autism-related conditions.

Finally, the level of severity of almost all of the familial features varied within multiplex siblingships independently. The features identified as familial replicate the combined set suggested in earlier, smaller studies. Furthermore, the familiality of these features extend to related conditions of milder severity than autism and appear to be independent.  Making distinctions among families by the severity of these features may be useful for identifying more genetically homogeneous subgroups in studies targeted at genes for specific autism-related symptom domains. Copyright 2001 Wiley-Liss, Inc.

PMID: 11840508 [PubMed - as supplied by publisher]

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Association Studies of the HOPA Dodecamer Duplication Variant In Different Subtypes Of Autism.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui ds=11840515&dopt=Abstract <- - address ends here.

Beyer KS, Klauck SM, Benner A, Poustka F, Poustka A.  Department of Molecular Genome Analysis, Deutsches Krebsforschungszentrum, Heidelberg, Germany.

The HOPA gene in Xq13 is coding for a protein involved in a nuclear thyroid receptor complex. Previous studies suggested association of the dodecamer duplication in the OPA-repeat region in exon 43 (according to the genomic database sequence) with autism, mental retardation, and schizophrenia/hypothyroidism.

We determined the frequency of this 12 bp duplication variant in a sample of 155 patients divided in different subtypes of autism, 278 parents of those patients, and 157 control individuals. The allele frequency of the duplication variant was not significantly different between autistic patients, their parents, and the control group.

Therefore, it is unlikely that this 12 bp duplication variant of the HOPA gene has major relevance to the susceptibility to different subtypes of autism at least in this German patient sample. In addition, we identified a third variant with a 15 bp deletion in the OPA-repeat region, recently described by another group, in one autistic patient.

This third allele was also present in the patient’s nonautistic mother and sister, who are heterozygous for this variant, but could not be detected in any other individual genotyped in this study. Expression analysis revealed transcription of all three allelic variants in lymphoblastoid cell lines. Furthermore, we identified a new splice variant that utilizes an additional 9 bp of the 3[prime prime or minute] intron subsequent to exon 39. Both alternative transcripts are coexpressed in all fetal and adult tissues examined. Copyright 2001 Wiley-Liss, Inc.

PMID: 11840515 [PubMed - as supplied by publisher]

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Lack of Association Between HoxA1 and HoxB1 Gene Variants And Autism In 110 Multiplex Families.  http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui ds=11840501&dopt=Abstract <- - address ends here.

Li J, Tabor HK, Nguyen L, Gleason C, Lotspeich LJ, Spiker D, Risch N, Myers RM.

Department of Genetics, Stanford University School of Medicine, Stanford, California.

A recent report suggested that the HoxA1 and/or HoxB1 genes play a role in susceptibility to autism. To determine whether these findings could be confirmed, we screened these genes for DNA polymorphisms by sequencing all exons in 24 individuals with autism. We identified the same sequence variants in the genes that appeared in this report, which include one single-base substitution variant in HoxA1 and a common haplotype in HoxB1.

We performed an association study by applying the transmission disequilibrium test to detect possible association of these variants to autism in 110 multiplex families. Our results demonstrated no deviation from the null hypothesis of no association. We have also separately examined transmissions within individual mating types, for paternal versus maternal alleles, to affected versus unaffected children, and for transmission to affected boys versus girls.

None of these subsets revealed significant deviation from the null expectation. Our interpretation of these findings is that it is unlikely that HoxA1 and HoxB1 play a significant role in the genetic predisposition to autism. Copyright 2001 Wiley-Liss, Inc.

PMID: 11840501 [PubMed - in process]

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Y chromosome Haplogroups In Autistic Subjects.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui ds=11840316&dopt=Abstract <- - address ends here.  Jamain S, Quach H, Quintana-Murci L, Betancur C, Philippe A, Gillberg C, Sponheim E, Skjeldal OH, Fellous M, Leboyer M, Bourgeron T.  Laboratoire d’Immunogenetique Humaine, INSERM E021, Institut Pasteur, 75015 Paris, France.

The male to female ratio in autism is 4:1 in the global autistic population, but increases to 23:1 in autistic subjects without physical or brain abnormalities.(1) Despite this well-recognised gender difference, male predisposition to autistic disorder remains unexplained and the role of sex chromosomes is still debated.

Numerical and structural abnormalities of the sex chromosomes are among the most frequently reported chromosomal disorders associated with autism. However, genome scans have failed to detect linkage on the X chromosome(2,3,4) and this approach cannot study the non-recombining region of the Y chromosome.

In this study, we searched for a specific Y chromosome effect in autistic subjects. Using informative Y-polymorphic markers, the Y chromosome haplotypes of 111 autistic subjects from France, Sweden and Norway were defined and compared with relevant control populations.

No significant difference in Y-haplotype distribution between the affected and control groups was observed. Although this study cannot exclude the presence of a Y susceptibility gene, our results are not suggestive of a Y chromosome effect in autism.

PMID: 11840316 [PubMed - as supplied by publisher]

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Pilot Assessment Of The Subtelomeric Regions Of Children With Autism:

Detection of a 2q Deletion.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui ds=11839952&dopt=Abstract <- - address ends here.  Wolff DJ, Clifton K, Karr C, Charles J.123.

PURPOSE: Autism is a chronic neurodevelopmental disorder characterized by deficits in reciprocal social interaction, language and communication, and by the presence of stereotypical behaviors. The disorder is a complex genetic trait with no known predisposing genes. We report the results of a pilot project to screen for aberrations in the gene-rich subtelomeric chromosomal regions of a cohort of children with autism.

METHODS: For our pilot project, we used a multiprobe system that includes probes for the subtelomeric regions of all human chromosomes. We assessed the subtelomeric regions of chromosomes from 10 children with a diagnosis of autism. RESULTS: The screen identified one child with an apparent deletion of the subtelomeric region of chromosome 2q; nine children and pooled control samples yielded normal results. The deletion in our patient was confirmed with two other subtelomeric probes and a targeted cytogenetic study revealed a subtle difference in appearance for one chromosome 2 homologue.

CONCLUSION: There have been several reports of children with dysmorphic features, autistic behaviors, and 2q deletions detectable with standard cytogenetic techniques. It may be that the distal region of chromosome 2q harbors a gene or genes that may predispose to autism.

PMID: 11839952 [PubMed - in process]

 

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No Association Between The Wnt2 Gene And Autistic Disorder.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui ds=11840514&dopt=Abstract <- - address ends here.

McCoy PA, Shao Y, Wolpert CM, Donnelly SL, Ashley-Koch A, Abel HL, Ravan SA, Abramson RK, Wright HH, DeLong GR, Cuccaro ML, Gilbert JR, Pericak-Vance MA.  Department of Medicine, Duke University Medical Center, Durham, North Carolina.

Autistic disorder is a pervasive neurodevelopmental disorder characterized by deficits in language and social communication, as well as stereotyped patterns of behavior. Peak LOD scores from several genomic screening efforts indicate the presence of an autistic disorder susceptibility locus within the distal long arm of human chromosome 7 (7q31-q35). Wassink et al. [2001: Am J Med Genet 105:406--413] reported that WNT2, located at 7q31, influences genetic risk in autistic disorder.

These findings were enhanced when examined in a subset of families with severe language impairment. WNT genes encode secreted growth factor—like proteins that participate in growth regulation, differentiation, and tumorigenesis. We tested for genetic association of two WNT2 variants in an independent data set of 135 singleton and 82 multiplex families.

No significant association was found between autistic disorder and the WNT2 genotypes in either the overall data set or in the language-impaired subset of families. However, differences in allele frequencies of the 3[prime prime or minute] UTR single nucleotide polymorphism between the present population and that of Wassink et al. may account for the inability to detect association between WNT2 and autistic disorder in the present data set.

We also screened the two reported autistic disorder mutations previously detected by Wassink et al. We did not identify any activating mutation in the coding region of the WNT2 gene. Thus, we conclude that activating mutations of the WNT2 gene are not a major contributor to the development of autistic disorder in these data. Copyright 2001 Wiley-Liss, Inc.

PMID: 11840514 [PubMed - as supplied by publisher] \

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Minicolumnar Pathology In Autism.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui ds=11839843&dopt=Abstract <- - address ends here.  Casanova MF, Buxhoeveden DP, Switala AE, Roy E.

Medical College of Georgia (Dr. Casanova), Augusta.

OBJECTIVE: To determine whether differences exist in the configuration of minicolumns between the brains of autistic and control patients.

BACKGROUND: Autism is a severe and pervasive developmental disturbance of childhood characterized by disturbances in both social interactions and communication, as well as stereotyped patterns of interests, activities, and behaviors. Postmortem neuropathologic studies remain inconclusive.

METHODS: The authors used a computerized imaging program to measure details of cell column morphologic features in area 9 of the prefrontal cortex and areas 21 and posterior 22 (Tpt) within the temporal lobe of nine brains of autistic patients and controls.

RESULTS: The authors found significant differences between brains of autistic patients and controls in the number of minicolumns, in the horizontal spacing that separates cell columns, and in their internal structure, that is, relative dispersion of cells. Specifically, cell columns in brains of autistic patients were more numerous, smaller, and less compact in their cellular configuration with reduced neuropil space in the periphery. CONCLUSIONS: In autism, there are minicolumnar abnormalities in the frontal and temporal lobes of the brain.

PMID: 11839843 [PubMed - in process]

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Lawmakers Seek Reforms in Vaccine Injury Compensation Program

A bipartisan group of lawmakers led by Government Reform Committee Chairman Dan Burton (R-IN) and Ranking Member Henry Waxman (D-CA) Wednesday introduced legislation to make the Vaccine Injury Compensation Program more generous and compassionate.

During two days of hearings before the Government Reform Committee, families of injured children complained about long delays, overly adversarial tactics employed by government lawyers, and other difficulties with the program.

The legislation introduced today would:

Increase the compensation for vaccine-related deaths to $300,000;

Make the compensation for lost earnings more generous;

Allow compensation for the costs of family counseling and creating a

guardianship;

Allow for the payment of interim attorneys fees and costs while a case is under review;

Extend the statute of limitations for filing a petition to six years;

and

Establish a two-year window for families to file a petition if they were previously excluded from the program by the existing two-year statute of limitations.

“Vaccine-related injuries are devastating for families that have to deal with them,” said Burton.  “Congress intended this program to be swift, compassionate and generous. However, too many times, these families are confronted by bureaucratic indifference, long delays and overly adversarial tactics.  We heard testimony from parents who fought for ten years to win compensation for their children.  That’s not acceptable.  This bill won’t fix every problem that people have experienced, but it’s a good first step.  We have bipartisan support for this bill, and I hope we can get it signed into law this year.  I want to thank Congressmen Waxman, Congressman Weldon, and all of the other cosponsors who helped put this bill together.”

“The Vaccine Injury Compensation Program has been largely successful in stabilizing the vaccine industry; in maintaining public confidence in immunizations; and in compensating people who have been injured by vaccines.  However, the system is not perfect.  This legislation would help to improve the program and help to make sure that it is as generous and easy as it can be,” said Waxman.

Immunizations are considered the most important public health achievement of the 20^th Century.  Because of immunizations, children are no longer disabled by polio, suffer brain damage from measles, or die from smallpox.  However, immunizations are not risk-free.  In rare cases, they can cause serious injuries.

Congress created the Vaccine Injury Compensation Program in 1986 to compensate families quickly and generously when vaccine injuries occur.  At the time, vaccine manufacturers were facing numerous vaccine injury lawsuits and were threatening to leave the market.  Creation of the VICP helped keep manufacturers in the market and stabilize vaccine supply.  Under the program, vaccine makers are partially shielded from liability for vaccine-related injuries.  An excise tax is charged with each dose of vaccine.  The proceeds go into a Federal fund used to compensate victims.

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Reader’s Posts

We’re far enough along now with our 5 year old autistic son we can offer to

take care of your autistic kid for a few hours so you can go have a meal or

whatever. No charge, we just want to help like we wish someone could have

Any information about behavioural vision therapy? what is it and is it

helpful for children with autism? Does is cause more damage if the therapy

is discontinued in the middle? Kindly let me know if you have any experience

or information about this therapy and also where in India this is

I am searching for a link or a resource to statistical information regarding

the cost of raising a special needs child through adulthood. Specifically, a

I am searching for a link or a resource to statistical information regarding

the cost of raising a special needs child through adulthood. Specifically, a

Started a site for parents and grandparents in Central North Carolina

connecting to discuss Doctors, Available Services, Schools, Therapies,

Special Diets, Suppliers, and Success Stories!  If you live in Central NC

 

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APRIL 21, 2002 - 12 Noon to 5pm

THIRD NATIONAL AUTISM AWARENESS RALLY:

“The Power of ONE! I.D.E.A.”

FREE and OPEN TO THE PUBLIC

www.unlockingautism.org

Lenny Schafer, Editor@feat.org  •  CALENDAR EVENTS@feat.org Michelle Guppy

Catherine Johnson PhD  •  Ron Sleith  •  Kay Stammers  •  Edward Decelie

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