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February 26, 2002
News Archive Search www.feat.org/search/news.asp
·
Problem Kid or Label? A Look at Sensory Integration
(Abstracts)
·
Indolyl-3-Acryloylglycine In The Urine Of Autistic
People
·
Mutation Disequilibrium Study Of ATP10C In Autism.
·
Behavioral Phenotypic Variation In Autism Multiplex
Families:
·
Analysis of 10 Candidate Genes In Autism By
·
Disability in Children From Different Ethnic
Populations
·
Ethical Issues and Disability Behaviors
·
Secretin For The Treatment Of Autism.
·
Duplication of the 15q11-q13 Region.
Some Say Sensory Integration Dysfunction Is a Legitimate
Diagnosis. Others Call It a New Name for a Familiar Behavior.
[By Stacey Colino in The Washington Post.]
http://www.washingtonpost.com/wp-dyn/articles/A935-2002Feb25.html
As a baby and toddler, Donna Kacin’s son seemed fussier
and more frequently out of sorts than other kids his age. Loose-fitting socks
or tags in the backs of his shirts would bother him no end. Any sudden noise
would cause him to clap his hands over his ears. The only foods he would eat
were white—bagels, noodles, bananas and cheese. Certain odors, such as those from
pizza or hot dogs, would send him running from the room. And everyday transitions,
such as leaving the playground, would induce meltdowns.
“Everything seemed to be a little harder for him,”
recalled Kacin, a mother of two who lives in the District. “He protested a lot
of things that other children seemed to take in stride.”
Such behavior often leaves doctors—and parents—scratching
their heads. Many wonder if the baffling behavior is due to food allergies, an anxiety
order, attention-deficit hyperactivity disorder (ADHD) or some other problem.
Often they have the child tested for these conditions.
But now some of these parents, including Kacin, are being
told their children may have a condition called sensory integration
dysfunction, or DSI.
The term sensory integration dysfunction was coined in the
1960s by A. Jean Ayres, an occupational
therapist in California who was interested in how sensory processing
difficulties could interfere with the ability to learn.
Occupational therapists (OTs) and other professionals
consider DSI a neurologically based disorder that makes it difficult to carry
out everyday tasks. This can mean children have a hard time playing, eating,
dressing, going to school and getting along with peers—some of the most crucial
early developmental challenges they face.
DSI is essentially “a problem of organizing and
interpreting the sensory information once it comes in so that you can do
something meaningful with it,” explains Lynn A. Balzer-Martin, a pediatric
occupational therapist in Chevy Chase who specializes in diagnosing children
suspected of having DSI.
But not all experts in child development and psychology
are aware of the condition, and others are deeply skeptical about it. Despite
its acceptance as a diagnosis among occupational therapists and some parents, DSI
is not acknowledged by the leading publications in psychology and child development.
It is not listed in the fourth edition of the Diagnostic and Statistical Manual
of Mental Disorders (DSM-IV), the bible of psychiatric disorders, or in the
International Classification of Diseases (ICD-9), published by the World Health
Organization.
If you search for the words “sensory integration dysfunction”
in the National Library of Medicine’s database, which incorporates thousands of
authoritative medical publications, not a single hit comes back. Use “sensory
integration disorder” and it comes back with just one reference, to sensory
problems related to autism.
“It’s not a part of my vocabulary,” said Karin Nelson, a
pediatric neurologist and chief of the neuroepidemiology branch of the National
Institute of Neurological Disorders and Stroke, which is part of the National
Institutes of Health. The condition is not indexed in child neurology
textbooks, Nelson said. “I don’t think it’s a neurologically acknowledged
disorder.”
“It is not a distinct entity,” said Paul Lipkin, an
assistant professor of pediatrics at the Kennedy Krieger Institute and the
Johns Hopkins School of Medicine in Baltimore and a member of the American
Academy of Pediatrics’s Section on Children with Disabilities. “There is no standard,
universally recognized diagnosis of sensory integration disorder. In the array of human qualities, there’s
always a degree of variation. In the medical field, we always have to have a
cutoff for what’s abnormal.”
Other practitioners believe that the cluster of symptoms
is real and deserving of treatment, even though it is not yet scientifically
validated as a distinct illness.
“It’s still a relatively new area for clinicians,” noted
David Fassler, a child and adolescent psychiatrist in Burlington, Vt., who is chairman
of the American Psychiatric Association’s Council on Children, Adolescents and
Their Families. “My sense is that there are kids who have this kind of problem,
and we’re still doing the research that’s necessary to define the parameters of
the disorder. It seems that some intervention programs do have some positive
effects for children. If it helps for a particular child—even if it’s early in
the course of understanding why it helps—I think it’s something we need to look
at seriously.”
In an answer in a Web-based forum for parents of children
with DSI, occupational therapist Barbara Hanft explains why professionals may
see the same symptoms in different ways—and as different conditions.
“Part of the problem . . . arises out of disciplinary
perspectives,” she wrote. “For any individual child with learning and behavior
problems, the MD may diagnose ADD or ADHD, the psychologist a mood disorder,
the OT sensory integration, the speech pathologist . . . an auditory processing
disorder, the teacher a specific learning disability, and so on. Each discipline
has a narrow focus and defines brain function by what they have been trained to
see.”
Acceptance of the legitimacy of DSI may depend partly on
geography. “I find that most pediatricians in the greater Washington area
accept the concept of sensory integration,” said Larry B. Silver, professor of psychiatry
at Georgetown University Medical Center and author of “The Misunderstood Child:
Understanding and Coping with Your Child’s Learning Disabilities” (Three Rivers
Press, 1998). “If you were to go to Minneapolis, you may not see this. It
depends on where pediatricians are trained.”
·
Article concludes at:
http://www.washingtonpost.com/wp-dyn/articles/A935-2002Feb25.html
* * *
Indolyl-3-Acryloylglycine In The Urine Of Autistic People “Identification
of indolyl-3-acryloylglycine in the urine of people with autism.”
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11858215&dopt=Abstract < - - address ends here.
Anderson RJ, Bendell DJ, Garnett I, Groundwater PW, Lough
WJ, Mills MJ,
Savery D, Shattock PE.Institute of Pharmacy, Chemistry and
Biomedical
Sciences, University of Sunderland, UK. roz.anderson@sunderland.ac.uk
HPLC analysis of the urine of autistic subjects indicated
the presence of an unidentified component in greatly increased concentrations.
We have reported the isolation of this component by HPLC and its
identification. Mass spectrometry, NMR
and UV spectroscopy identified the peak as corresponding to
indolyl-3-acryloylglycine (IAG, 3), and this has been confirmed by an
independent synthesis.
PMID: 11858215 [PubMed - in process]
* * *
Mutation Disequilibrium Study Of ATP10C In Autism. “Mutation screening and transmission disequilibrium
study of ATP10C in autism.”
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11857573&dopt=Abstract <- - Address ends here.
Kim S, Herzing LB, Veenstra-VanderWeele J, Lord C,
Courchesne R, Leventhal BL, Ledbetter DH, Courchesne E, Cook EH Jr.
Laboratory of Developmental Neuroscience, Child and
Adolescent Psychiatry, Department of Psychiatry MC3077, University of Chicago,
Chicago, Illinois.
Autism is a complex genetic disorder. Chromosome 15 is of
particular interest in this disorder, because of previous reports of
individuals with autism with chromosomal abnormalities in the 15q11-q13 region.
Transmission disequilibrium between polymorphisms in this region and autism has
been also been reported in some, but not all studies. Recently, a novel
maternally expressed gene, ATP10C, was characterized and mapped to the
chromosome 15q11-q13 region, 200 kb distal to UBE3A.
It encodes a putative aminophospholipid translocase likely
to be involved in the asymmetric distribution of proteins in the cell membrane. Preferential maternal expression has been
demonstrated in fibroblasts and brain. Because of its physical location and
imprinting pattern, ATP10C was considered to be a candidate gene for chromosome
15-associated autism. In an effort to find the genes responsible for autism in
this chromosomal region, 1.5 kb of the 5[prime prime or minute] flanking
region, as well as the coding and splicing regions of ATP10C, were screened for
sequence variants.
Several polymorphic markers including five nonsynonymous
SNPs were identified. To investigate transmission disequilibrium between ATP10C
and autism, a family-based association study was conducted for 14 markers in
115 autism trios. No significant transmission disequilibrium was found, suggesting
ATP10C is unlikely to contribute strongly to susceptibility to autism in these
families. However, due to limited power to detect genes of modest effect, the
possible functional role of the nonsynonymous SNPs and the functional
implications of the SNPs identified from 5[prime prime or minute] flanking
region and intron 2 splicing region may be evaluated in further studies.
Copyright 2002 Wiley-Liss, Inc.
PMID: 11857573 [PubMed - as supplied by publisher]
* * *
Behavioral Phenotypic Variation In Autism Multiplex
Families:
Evidence for a continuous severity gradient
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11857572&dopt=Abstract <- - address ends here.
.
Spiker D, Lotspeich LJ, Dimiceli S, Myers RM, Risch N. Division of Child Psychiatry and Child
Development, Department of Psychiatry and Behavioral Sciences, Stanford
University School of Medicine, Stanford, California.
Recent genetic investigations of autism have studied
multiplex families, typically including families with multiple siblings who
meet criteria for a diagnosis of autism. However, little is known about the specific
behavioral characteristics of siblings with autism in these multiplex families.
We investigated the behavioral phenotypic variability and similarity of 351
siblings with autism in 171 multiplex families using cluster analysis and
correlations.
The results of cluster analyses showed that the
individuals with autism could be characterized on a severity gradient: a
continuum based on severity of symptoms and impairment as measured by Autism
Diagnostic Interview-Revised (ADI-R) scores, verbal-nonverbal status, and
nonverbal IQ scores. Clusters based on scores from the ADI-R for the autism
diagnostic criteria of the DSM-IV and nonverbal IQ scores still represented a
severity gradient when the effects of verbal-nonverbal status were removed.
The severity gradient was shown to be heritable, with a
sib correlation of 30% or a heritability of 60%. In summary, in a sample of 171
autism multiplex families, there was no evidence of discrete behaviorally defined
subgroups of affected individuals or families characterized by distinct
patterns of behavioral symptoms. Rather, the clusters could be characterized
along a single, heritable, continuous severity dimension. Copyright 2002 Wiley-Liss, Inc.
PMID: 11857572 [PubMed - in process]
* * *
Analysis of 10 Candidate Genes In Autism By Association
& Linkage http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11857571&dopt=Abstract <- - Address ends here.
Philippe A, Guilloud-Bataille M, Martinez M, Gillberg C,
Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Penet C, Feingold J,
Brice A, Leboyer M.
INSERM U 513, Hopital Henri Mondor, Creteil, France.
We studied the possible involvement of ten candidate
genes in autism:
proenkephalin, prodynorphin, and proprotein convertase
subtilisin/kexin type 2 (opioid metabolism); tyrosine hydroxylase, dopamine
receptors D2 and D5, monoamine oxidases A and B (monoaminergic system);
brain-derived neurotrophic factor, and neural cell adhesion molecule (involved
in neurodevelopment).
Thirty-eight families with two affected siblings and one
family with two affected half-siblings, recruited by the Paris Autism Research International
Sibpair Study (PARIS), were tested using the transmission disequilibrium test
and two-point affected sib-pair linkage analysis. We found no evidence for
association or linkage with intragenic or linked markers. Our family sample has
good power for detecting a linkage disequilibrium of 0.80.
Thus, these genes are unlikely to play a major role in the
families studied, but further studies in a much larger sample would be needed
to highlight weaker genetic effects. Copyright 2002 Wiley-Liss, Inc.
PMID: 11857571 [PubMed - in process]
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* * *
Disability in Children From Different Ethnic Populations http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11856191&dopt=Abstract <- - address ends here.
Morton R, Sharma V, Nicholson J, Broderick M, Poyser J. Ronnie Mackeith Child Development Centre,
Derbyshire Childrens’ Hospital and.
We report on the prevalence of severe neurodisability in
children in the Southern Derbyshire Health Authority from different ethnic
groups. Information was obtained from
the health records of children at the Child Development Centre (CDC), and
analysed according to ethnic group. There were 53 in the Pakistani group, 20 in
the Indian group and 764 in a mixed group, of which 95% were of European
origin.
It was estimated that all children with severe disability
in the area of the Health Authority had notes at the CDC, except for 10% of the
mixed group living on the periphery. The numbers of children with different disabling
conditions were recorded, together with a measure of the level of individual
disability; the ‘Disability Scores’.
We also noted if the condition was genetic or chromosomal
in origin. Pakistani children showed a
higher prevalence than the other groups of severe learning disorder, severe and
profound hearing loss and severe visual problems. They also had a slightly
increased prevalence of autism and cerebral palsy. Conversely, they showed a
lower prevalence of language disorder.
Disability scores for Pakistani children attending the CDC
were higher than for other groups. Genetic disease causing disability was 10
times more common in the Pakistani children than other ethnic groups.
Disability is more common in Pakistani children probably as a result of the
cultural practice of consanguineous marriages. This community needs special
help for disabled children, and their families, for general support and
appropriate genetic counselling.
PMID: 11856191 [PubMed - as supplied by publisher]
* * *
Ethical Issues and Disability Behaviors
“Ethical issues involved in the implementation of a
differential
reinforcement of inappropriate behaviour programme for the
treatment of
social isolation and ritualistic behaviour in an individual
with
intellectual disabilities”
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11851859&dopt=Abstract <- - address ends here. Iqbal Z. School of Psychology, University of
Birmingham, Birmingham, UK.
The present case study describes an adult male with a
28-year history of institutional care underpinned by a moderate intellectual
disability (ID), and ritualistic behaviour congruent with features of autism or
obsessive-compulsive disorder.
The subject’s ID was recognized early in life and he was
provided with a special educational placement at 6 years of age, although his
increasingly disturbed behaviour had resulted in several psychiatric admissions
by early adolescence, and by the age of 20, his presentation necessitated long-term
secure psychiatric care.
The present report describes the application and ethical
issues pertaining to a differential reinforcement of inappropriate behaviour
(DRI) programme for the reduction of ritualistic behaviour and social
isolation, the latter being a direct consequence of the former, one year after
the subject was admitted to a medium-secure assessment and treatment
residential facility.
The results suggest that, although the treatment was
successful in targeting ritualization and reducing social isolation, ethical
concerns extended to care staff concerns about the reinforcer adopted for the programme
and the lack of informed consent from the subject. The former resulted in
inconsistent application of the programme and its eventual termination. A
follow-up assessment of the subject’s extent of social isolation and
ritualistic behaviour suggested a return to a pre-DRI level of morbidity.
Limitations and suggestions for the future treatment of such cases are
outlined.
PMID: 11851859 [PubMed - in process]
* * *
Secretin For The Treatment Of Autism.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11847953&dopt=Abstract < - - address ends here. McQueen JM, Heck AM.
Ambulatory Services, University Hospital, Health Alliance,
Cincinnati, OH,
OBJECTIVE: To evaluate the role of secretin in the
treatment of children with autism. DATA SOURCE: Literature was assessed through
MEDLINE, EMBASE, BIOSIS (November 1998-August 2001), and the World Wide Web.
Literature included scientific studies, anecdotal reports,
and meeting
abstracts. Key search terms included autism and secretin.
DATA
SYNTHESIS: Autism is a pervasive developmental disorder.
Although several treatments exist, no cure has been identified. New information
suggests that secretin may be beneficial for this disorder. A critical evaluation
of current information about the use of secretin in autism was conducted.
CONCLUSIONS: Currently, several anecdotal reports and a
few controlled trials with conflicting results have been published regarding
the use of secretin in autism. Further studies should be conducted to determine
the safety and efficacy of secretin for autism.
PMID: 11847953 [PubMed - in process]
* * *
Duplication of the 15q11-q13 Region.
“A family with a grand-maternally derived interstitial
duplication of proximal 15q.” http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11846734&dopt=Abstract <- - Address ends here.
Boyar F, Whitney M, Lossie A, Gray B, Keller K, Stalker H,
Zori R, Geffken G, Mutch J, Edge P, Voeller K, Williams C, Driscoll D. Raymond C. Philips Unit, Division of
Pediatric Genetics, Department of Pediatrics and Center for Mammalian Genetics,
University of Florida College of Medicine, Greenwood Genetic Center, Greenwood,
SC, Department of Psychiatry, University of Florida College of Medicine,
Gainesville, FL, USA.
About 1% of individuals with autism or types of pervasive developmental
disorder have a duplication of the 15q11-q13 region. These abnormalities can be
detected by routine G-banded chromosome study, showing an extra marker
chromosome, or demonstrated by fluorescence in situ hybridization (FISH)
analysis, revealing an interstitial duplication.
We report here the molecular, cytogenetic, clinical and neuropsychiatric
evaluations of a family in whom 3 of 4 siblings inherited an interstitial
duplication of 15q11-q13. This duplication was inherited from their mother who
also had a maternally derived duplication. Affected family members had apraxia
of speech, phonological awareness deficits, developmental language disorder,
dyslexia, as well as limb apraxia but did not have any dysmorphic clinical
features.
The observations in this family suggest that the
phenotypic manifestations of proximal 15q duplications may also involve
language-based learning disabilities.
PMID: 11846734 [PubMed - as supplied by publisher]
* * *
Problem Behavior In Boys With Fragile X Syndrome http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ui
ds=11857559&dopt=Abstract <- - Address ends here.
.
Hatton DD, Hooper SR, Bailey DB, Skinner ML, Sullivan KM,
Wheeler A. Frank Porter Graham Child
Development Center, University of North Carolina at Chapel Hill, Chapel Hill,
North Carolina.
This study examines problem behavior over time in 59 boys
with fragile X syndrome (FXS), aged 4-12 years, using the Child Behavior
Checklist (CBCL). Approximately 49% of the boys scored within the borderline or
clinical range on total problem behavior, while 56-57% scored in the borderline
or clinical range on the attention and thought problems subscales, and 26%
scored in this range on the social problems subscale. With a mean of 2.5 assessments per child, behavior problems were
stable during the 3-year period of study.
Total problem behavior was higher for children who
displayed autistic behavior, were rated as low in adaptability, had mothers
with higher maternal education levels, and were on medication. Mothers with
more education also rated their children as having more attention, thought, and
total problems.
Children taking medication differed from boys who were not
taking medication on social problems, but not on attention and thought
problems. Low adaptability and more
autistic characteristics predicted thought problems. Copyright 2002 Wiley-Liss,
Inc.
PMID: 11857559 [PubMed - in process]
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