Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

16 Sep

Metabolic disorders became a major point of discussion within the autism community a few years back. The upside was that a potentially important area of research (and not just within autism) was highlighted. The downside was that a lot of misinformation was propagated.

A lot of answers are still unknown precisely. The prevalence of metabolic disorders in autism, specifically mitochondrial disorders, was likely exaggerated by many, but that doesn’t make it an unimportant question. The question of how metabolic disorders fit into the etiology of autism is another open and valuable question.

The current study addresses the question of whether autistics should be routinely screened for metabolic disorders. On some very real level, I’m sure many people think that people should be screened for everything. If screening were fast, accurate, cheap and non-invasive, this would be a good point. But, this isn’t really the case. So the authors pose the question: Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

The paper comes from a group at APHP, Reference Center for Inherited Metabolic Disease, Hôpital Robert Debré, Paris, France.

Here is the abstract:

BACKGROUND:

In the investigation of autism spectrum disorders (ASD), a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD) is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID). In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD.
OBJECTIVES:

To evaluate the utility of routine metabolic investigations in nonsyndromic ASD.
PATIENTS AND METHODS:

We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids) routinely performed in 274 nonsyndromic ASD children.
RESULTS:

The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria.

CONCLUSIONS:

These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%). A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.

They conclude that the prevalence of inherited metabolic disorders (IMD) in non-syndromic (i.e. those where an underlying condition is considered to be the cause of autism) autistics is about the same as for the general population (<0.5%) and that routine screening does not give insight into the cause of autism.

Here are a couple of paragraphs from the study:

Notably, a recent study pointed out that mitochondrial dysfunction may be involved in ASD [30]. In this report, plasma lactate determination was performed in a restricted sample of 69 patients with ASD. Twenty per cent of them displayed hyperlactatemia and 7% fulfilled the criteria for a disorder of oxidative phosphorylation (OXPHOS) [30]. This initial study has limitations as the autistic clinical phenotype was not well defined. More recently, a retrospective study of 25 patients with a primary diagnosis of nonsyndromic autism who were further determined to have enzyme- or mutation- defined OXPHOS deficiency showed that 96% of these patients actually exhibited clinical symptoms differentiating them from idiopathic autism [31]. These results suggest that careful clinical and biochemical reappraisal is warranted in patients with ASD initially considered as nonsyndromic, but also confirm that ASD patients with OXPHOS dysfunction often exhibit other symptoms such as microcephaly, marked motor delay, sensorineural deafness, oculomotor abnormalities, exercise intolerance, cardiomyopathy or renal tubular dysfunction. Accordingly, we decided not to screen for hyperlactatemia in our nonsyndromic ASD population. Furthermore, normal plasma lactic acid concentrations do not exclude the presence of a mitochondrial disorder [32], [33]. Recent reports emphasize a putative association between mitochondrial dysfunction and autism (for review see [34]) and highlight the role of brain energy metabolism dysfunction as an important target for future studies [35]. In ASD, as already emphasized for several neurodegenerative disorders [36], [37], [38], [39], mitochondrial dysfunction could be regarded as a secondary defect in brain energy metabolism.

They state that mitochondirial dysfunction is “secondary”, which I believe means they don’t see it as causative for autism. This is made more clear below:

The data reported here strongly support the view already stressed by others [20], [44] that systematic metabolic investigations are not contributive to the etiology of nonsyndromic ASD. On the other hand, early diagnosis and proper therapeutic intervention for some metabolic disorders causing nonsyndromic ASD may significantly improve the long-term cognitive and behavioral outcomes [20]. Therefore, a careful clinical evaluation, with cautious reappraisal of clinical signs, is crucial. Such a medical practice appears more reasonable than a costly systematic workup. Finally, a large population based prospective study assessing the benefits of routine metabolic screening in nonsyndromic ASD would be of great interest in the future to confirm our results.

They suggest that while discovering underlying metabolic disorders/dysfunctions can lead to beneficial treatments for those affected, they don’t shed light on the cause (etiology) of autism.

“Therefore, a careful clinical evaluation, with cautious reappraisal of clinical signs, is crucial. Such a medical practice appears more reasonable than a costly systematic workup. ”

I find the above very interesting. I’m sure that many in the alternative medical community would read that as approval of their less stringent diagnostic practices. To me it plays more into the idea that diagnosis of metabolic disorders can be as much an art as a science at times. To me, this means seeking out “one skilled in the art” (i.e. a metabolic specialist), rather than, say, a DAN doctor.

Here are a most of the references cited in the paragraphs above.

[30]Oliveira G, Diogo L, Grazina M, Garcia P, Ataide A, et al. (2005) Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol 47: 185–189. Find this article online
[31]Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, et al. (2008) Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS One 3: e3815. Find this article online
[32]Debray FG, Lambert M, Chevalier I, Robitaille Y, Decarie JC, et al. (2007) Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 119: 722–733. Find this article online
[33]Touati G, Rigal O, Lombes A, Frachon P, Giraud M, et al. (1997) In vivo functional investigations of lactic acid in patients with respiratory chain disorders. Arch Dis Child 76: 16–21. Find this article online
[34]Rossignol DA, Frye RE (2011) Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry.
[35]Haas RH (2010) Autism and mitochondrial disease. Dev Disabil Res Rev 16: 144–153. Find this article online
[36]Moreira PI, Zhu X, Wang X, Lee HG, Nunomura A, et al. (2010) Mitochondria: a therapeutic target in neurodegeneration. Biochim Biophys Acta 1802: 212-220. pp. 212–220.
[37]Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, et al. (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973–983. Find this article online
[38]Damiano M, Galvan L, Deglon N, Brouillet E (2010) Mitochondria in Huntington’s disease. Biochim Biophys Acta 1802: 52-61. pp. 52–61.
Mochel F, Haller RG (2011) Energy deficit in Huntington disease: why it matters. J Clin Invest 121: 493–499. Find this article online
[39] Mochel F, Haller RG (2011) Energy deficit in Huntington disease: why it matters. J Clin Invest 121: 493–499

United States politicians on the campaign trail take up vaccine injury…again

15 Sep

In the last US presidential campaign, prominent candidates made statements about vaccine injury. Specifically autism.

Senator McCain made comments about autism and mercury:

“At a town hall meeting Friday in Texas, Sen. John McCain, R-Ariz., declared that “there’s strong evidence” that thimerosal, a mercury-based preservative that was once in many childhood vaccines, is responsible for the increased diagnoses of autism in the U.S. — a position in stark contrast with the view of the medical establishment.”

Barak Obama made a comment which, without the video to put it in context, seemed to lend support:

“We’ve seen just a skyrocketing autism rate. Some people are suspicious that it’s connected to the vaccines. This person included. The science right now is inconclusive, but we have to research it.” –Barack Obama, Pennsylvania Rally, April 21, 2008.

(“this person” was a person in the audience)

This time it is Michele Bachman. She has made the claim that gardasil (the vaccine against HPV, given to teenage and older women), resulted in “mental retardation”.

Candidate Rick Perry responded to the baseless accusation by Ms. Bachman:

You heard the same arguments about giving our children protections from some of the childhood diseases, and they were, autism was part of that. Now we’ve subsequently found out that was generated and not true.”

As a side note: the Pharyngula blog is reporting that Prof. Steven Miles has put up a $1,000 challenge for proof of Ms. Bachman’s statement.

I am offering $1000 for the name and medical records release of the person who Michele Bachmann says became mentally retarded as a consequence of the HPV. Please share this message.

Ms. Bachman’s comments were just plain wrong. She’d do well to apologize and move on. My own biased suggestion would be for her to move on into discussing some subjects involving the betterment of life for the disabled. This isn’t exactly a big plank in the republican platform but, hey, isn’t this about showing leadership?

Save the Date! ASAN 5-Year Anniversary Celebration

14 Sep

The Autistic Self Advocacy Network is turning five. Unlike most five-year-olds, they are throwing their own party. At the National Press Club, no less:

Save the Date!

The Autistic Self Advocacy Network’s
5 Year Anniversary Celebration

Wednesday, November 16, 2011
6:30 – 9:00 pm

Join us for a special celebration and fundraising event at
The National Press Club in Washington, D.C.

Cocktails, hors d’oeuvres and dessert will be served.

Keynote Speaker:

Dr. Alexa Posny,
Assistant Secretary for
Special Education and Rehabilitative Services

Honoree:

Ms. Nancy Thaler,
Executive Director,
National Association of State Directors
of Developmental Disability Services

Proceeds will support our advocacy work and programs for the coming year and allow us to continue working to empower disabled people across the country.

www.autisticadvocacy.org

Autism spectrum disorders (ASD) in Africa: a perspective

14 Sep

A recent article takes a look at autism in Africa. The author is from Nigeria, the journal from South Africa. Autism spectrum disorders (ASD) in Africa: a perspective looks as though it doesn’t go into great depth “the situation in Africa on aspects of ASD remain unclear”. An that is a major point: there isn’t much data to work from. Autism is just not studied globally yet.

Here is the abstract:

Abstract

BACKGROUND:

The universal occurrence of autism spectrum disorders (ASD) was queried about twenty-six years ago. It was thought to occur only in western industrialized countries with high technological development. Over the last decade, knowledge about ASD and its prevalence has been documented as being on the rise in different regions of the world, with most literature coming from the western world – the situation in Africa on aspects of ASD remain unclear.

METHODS:

Literature cited in Pubmed over the last decade on aspects of epidemiology, diagnosis, aetiology and knowledge of ASD in the African context were assessed. Keywords: autism, diagnosis, aetiology, knowledge and Africa were variously combined in the literature search.

RESULTS:

No study specifically addressed the epidemiology of ASD in Africa. One of the two studies that were relevant addressed epidemiology of ASD in Arab countries, though included two Northern African countries. A higher proportion of non-verbal cases of ASD compared to verbal cases was documented in literature coming from Africa. Associated co-morbid disorders included intellectual disability, epilepsy and oculo-cutaneous albinism. Aetiological factors postulated included post-encephalitic infection, genetic and auto-immune factors, and vitamin D deficiency. Knowledge about ASD in Africa was noted to be low.

CONCLUSION:

There is a need for epidemiological studies in Africa to define the magnitude of the problem of ASD and the characteristics of children affected by ASD in this region. This would help in planning and might be helpful in answering the question of aetiology of ASD. Policy making needs to be directed at issues of childhood developmental disorders in Africa.

One thing I would point out: autism isn’t really well understood in the developed/western world yet either. It’s just better reserched and understood. Someday we will look back and be amazed at questions we misunderstood or didn’t even know to ask. That is, someday if we put the effort in now to keep a high level of research focus on autism.

Which leads me to point out (and go off topic): In the U.S. the Combating Autism Reauthorization Act is being considered by congress. Senate Bill 1094 is 163rd in line for consideration. That doesn’t sound so good with the possibility that the legislature will recess without considering the bill. At the very least, the Combating Autism Act is set to sunset in 2 weeks. It seems highly unlikely that the reauthorization will be approved (if at all) in time.

Lessons from the MMR scare

13 Sep

Fiona Godlee, editor of the British Medical Journal (BMJ), recently presented to the National Institutes of Health on the “Lessons from the MMR scare”.

The talk is now online at the NIH site (no embed link is obvious to me at present).

The talk gives a nice hour long discussion of the issues surrounding Andrew Wakefield’s research efforts in autism and the MMR vaccine.

One of the points Ms. Godlee goes into is a good example of the sort of falsification that is prevalent in the Lancet paper. She discusses the fact that 11 of the 12 families thought that the MMR vaccine was linked to developmental regression. The paper reported that only 8 families felt there was a link. Earlier drafts of that more families thought there was a link, but those families reporting long times to onset after MMR were removed.

Another discrepancy to emerge during the GMC hearing concerned the number of families who blamed MMR. The paper said that eight (1, 2, 3, 4, 6, 7, 8, and 11) linked developmental issues with the vaccine. But the total in the records was actually 11. The parents of child 5, 9, and 12 were also noted at the hospital as blaming the vaccine, but their stated beliefs were omitted from the journal.

It is one of those very simple arguments that shows misrepresentation of the facts.

How did the misconduct become exposed? She discusses how 4 factors played into why this case of fraud was exposed:

1) A skilled investigative reporter was put on the case (Brian Deer)
2) the freedom of information act was enacted in 2000 (allowed access to information)
3) Mr. Wakefield’s decision to sue Brian Deer. (This forced Brian Deer to do further digging to defend himself.)
4) The GMC’s decision to take up the case. (This placed much data in the public domain)

It has been discussed a number of times previously that Mr. Deer gained access to the medical records after the lawsuit was started, and that the lawsuit was withdrawn literally as he was reviewing the documents.

She discusses the backlash that the BMJ has received with negative comments. Also some very strange misrepresentations. For example, an article in “Natural News” is incorrect (not surprising to those familiar with the site) in stating “BMJ admits that fraud claim against Dr. Andrew Wakefield has no basis in fact”.

She discusses the claim that Andrew Wakefield’s work has been replicated. It is a common argument that comes up. And, it isn’t true. There are attempts to replicate which his work which failed to do so.

No legal challenge from Mr. Wakefield and no complaints to the press complaints commission. Interestingly (to me at least) is that he declined an offer from the BMJ to write a reply.

I find it intersting that she couldn’t even recall Jim Carrey’s name (and had even less recall of Jenny McCarthy’s name).

She points out that the GMC was not really the proper forum to investigate the research fraud. But, at present the UK has no office of research integrity.

She poses the question of what could have been done to prevent this. She suggests that greater oversight needs to be in place. She also points out that co-authors need to take a more active role in oversight of data reporting. Better peer review is needed. But when an author lies, it is difficult for an editor to discover it. There should be some level of penalty for research fraud–as in, why isn’t this a criminal act?

She calls for better research on vaccine safety research. Also for better autism research.

IACC Services Workshop: Enhancing Supports for People with Autism and Their Families: Community Integration and the Changing Delivery System

12 Sep

The Interagency Autism Coordinating Committe with hold a workshop on services: Enhancing Supports for People with Autism and Their Families: Community Integration and the Changing Delivery System. This workshop will be held this week, September 15th. The announcement is below.

Date:
Thursday, September 15, 2011

Time:
8:30 a.m. to 6:00 p.m. Eastern

Agenda:
The workshop will focus discussion in a public forum innovative and best practices that are being developed and implemented around the country to address the services needs of people with autism and other disabilities and to help them integrate into their communities.

To view the agenda, click here.

Place:
The Bethesda Marriott
5151 Pooks Hill Road
Bethesda, Maryland 20814
Map and Directions

Webcast Live:
http://nih.granicus.com/ViewPublisher.php?view_id=5

Conference Call Access:
Dial: 888-390-1050
Access code: 1840636

Cost:
The meeting is free and open to the public.

Pre-Registration:
http://www.acclaroresearch.com/oarc/9-15-11/
Pre-registration is strongly recommended, but PRE-REGISTRATION DOES NOT GUARANTEE YOU A SEAT. Seating is first come, first served, with expedited check-in for those pre-registered. Seating is limited to room capacity.

Access:
On-site parking available with validation

Contact Person:
Ms. Lina Perez
Office of Autism Research Coordination
National Institute of Mental Health, NIH
6001 Executive Boulevard, Room 8185a
Rockville, Maryland 20892-9669
Phone: 301-443-6040
Email: IACCPublicInquiries@mail.nih.gov

Please Note:
This workshop will also be open to the public through a conference call. Members of the public who participate using the conference call phone number will be able to listen to the discussion but will not be heard. If you experience any technical problems with the conference call, please e-mail IACCTechSupport@acclaroresearch.com or call the IACC Technical Support Help Line at 443-680-0098.

Individuals who participate in person or by using these electronic services and who need special assistance, such as captioning of the conference call or other reasonable accommodations, should submit a request to the Contact Person listed on this notice at least 7 days prior to the meeting.

As a part of security procedures, attendees should be prepared to present a photo ID at the meeting registration desk during the check-in process. Pre-registration is recommended. Seating will be limited to the room capacity and seats will be on a first come, first served basis, with expedited check-in for those who are pre-registered. Please note: Online pre-registration will close by 5:00 p.m. the day before the meeting. After that time, registration will have to be done onsite the day of the meeting.

Schedule for meeting is subject to change.

Autism Phenome Project announces first results at the Asia Pacific Autism Conference

8 Sep

The Asia Pacific Autism Conference is ongoing in Perth Australia. Prof. David Amaral of the Mind Institute at U.C. Davis (California) will speak and present the first results from the Autism Phenome Project. This is a study to separate autism into various groups, or phenomes.

Here is a blurb from the press announcement for the conference:

The announcement of the first results of the Autism Phenome Project, the largest and most comprehensive assessment of children with Autism ever attempted. The project started in 2006 and is being conducted at the MIND Institute at the University of California, Davis (UC Davis). It is headed by Dr David Amaral and involves 52 scientists across eight fields. Dr Amaral is the President of the International Society of Autism Research. He is Distinguished Professor of Psychiatry and Behavioural Sciences at the Centre for Neuroscience at UC Davis. He is also Research Director and Beneto Foundation Chair of the MIND Institute. Dr Amaral will announce the results.

An Australian news outlet carried the story as US researchers’ discovery promises answers on autism.

Researchers from the University of California Davis’s MIND Institute in Sacramento began the Autism Phenome Project in 2006. They have been studying the brain growth, environmental exposure and genetic make-up of 350 children aged between 2 and 3 1/2 years, and have so far found two biologically distinct subtypes of autistic brain development.

One group of children – all boys – had enlarged brains and most had regressed into autism after 18 months of age; another group appeared to have immune systems that were not functioning properly.

Prof. Amaral’s slides have been made available.

They show, amongst other findings

Total cerebral volume is highly variable in ASD, but appears to be on average higher in ASD boys than controls.

There are various onset types: early onset, plateau, and regression.

Those who exhibit loss of skills have enlarged brains. But, interestingly, the head circumferences start to diverge at about 4-6 months. I.e. there are signs even before the regression occurs.

However, he has a talk “Neurobiological and neuro-immune features of Autism” with the following abstract:

The slides do not appear to discuss the immune phenotype mentioned in the press. However, Autism now affects 1:110 children in the United States. It is a complex disorder that likely has many variants and various etiologies. The first half of this presentation evaluates the hypothesis that the amygdala plays an important role in the pathophysiology of autism. First, MRI studies of the amygdala in children with autism are presented. Then, postmortem data on the morphology of the amygdala in autism are described. Observations are presented both on neurons and glia in the amygdala. Taken together these data confirm that the amygdala is clearly pathological in autism. Given that the amygdala is pathological, what might this pathology contribute to the behavioural impairments of autism? To address this issue, research on the nonhuman primate is discussed. These studies highlight a role for the amygdala in fear regulation and perhaps in mediating the co?morbid anxiety in autism. In the second part of the talk, data demonstrating abnormalities of the immune system of children with autism and a subset of mothers of children with autism are discussed. I also review findings of a nonhuman primate model of autism based on a neuroimmune intervention.

Autism and SSRI’s: preliminary data but good enough for attorneys

8 Sep

Recently, an article in the Archives of General Psychiatry raised the question of whether SSRI’s (selective seratonin reuptake inhibitors) might increase the risk of autism. The paper, Antidepressant Use During Pregnancy and Childhood Autism Spectrum Disorders, came from the Kaiser Permanente research group.

The study was relatively small, as you can see from the results (20 case children and 50 controls):

Results Prenatal exposure to antidepressant medications was reported for 20 case children (6.7%) and 50 control children (3.3%). In adjusted logistic regression models, we found a 2-fold increased risk of ASD associated with treatment with selective serotonin reuptake inhibitors by the mother during the year before delivery (adjusted odds ratio, 2.2 [95% confidence interval, 1.2-4.3]), with the strongest effect associated with treatment during the first trimester (adjusted odds ratio, 3.8 [95% confidence interval, 1.8-7.8]). No increase in risk was found for mothers with a history of mental health treatment in the absence of prenatal exposure to selective serotonin reuptake inhibitors.

But it indicated the possibility of a higher risk. Here’s the conclusion from the abstract of that paper:

Conclusion Although the number of children exposed prenatally to selective serotonin reuptake inhibitors in this population was low, results suggest that exposure, especially during the first trimester, may modestly increase the risk of ASD. The potential risk associated with exposure must be balanced with the risk to the mother or fetus of untreated mental health disorders. Further studies are needed to replicate and extend these findings.

It is a rather guarded conclusion, with “further studies are needed…”

When CNN covered the story, they interviewed the lead author:

“This is the first study of its kind to look at the association, and the findings have to be interpreted with a lot of caution,” she says. “We can’t detect causality from one study.”

This paper came out July 4th.

Here we are, two months later, and what do I find in a recent google search? A nice big ad for attorney’s looking to build a class action lawsuit. I won’t link to the site, but here are some paragraphs from their page:

New research demonstrates that mothers who take SSRI (selective serotonin reuptake inhibitor) antidepressants while pregnant have a greatly increased risk of having a child with an Autism Spectrum Disorder.

“Greatly increased” risk. No guarded language here. No “further studies”. No “modestly increase”.

And, there is the pain…to the parent…that should be compensated:

Having a child with an Autism Spectrum Disorder can be stressful, both emotionally and financially. An autistic child may require expensive treatments, therapy, and special education. This can put a high emotional and financial toll on a family with an autistic child.

America. Land of the lawsuit.

Senate Health Committee Unanimously Approves Menendez, Enzi Bill to Combat Autism

7 Sep

The Combating Autism Re-authorization Act (CARA) has passed the Senate Health Committee. Here is the press release from Senator Menendez, who is sponsoring the bill.

Senate Health Committee Unanimously Approves Menendez, Enzi Bill to Combat Autism

September 7, 2011

WASHINGTON – U.S. Senator Robert Menendez (D-NJ) today announced that his bill to combat Autism took a key step forward, being unanimously approved by the Senate Health, Education, Labor and Pensions (HELP) Committee. The Combating Autism Reauthorization Act (S. 1094) is a critical piece of bipartisan legislation will extend the programs authorized under the original Combating Autism Act (CAA) to continue for an additional three years.

The CAA provides for autism surveillance programs at the Centers for Disease Control and Prevention, as well as intervention and training programs at the Health Resources and Services Administration. Additionally, this legislation allows for the continuation of the Interagency Autism Coordinating Committee (IACC), which is responsible for advising the Secretary of Health and Human Services (HHS) on autism polices, coordinating the federal response to autism and developing the annual strategic plan for autism research. These programs have been critical in advancing research on the causes, diagnosis and treatments of autism. The CAA sunsets on September 30. Next the bill will move to the full Senate for consideration and then be sent to the U.S. House of Representatives.

“Passage of this bill is essential in continuing our efforts toward understanding autism and ensuring individuals living with developmental disabilities and their families have the support they need,” said Sen. Menendez. “I want to thank Chairman Harkin for his leadership and commitment to moving this important legislation and Ranking Member Enzi for his continued support of it. As the lead cosponsor of this bill, his leadership helps to ensure the ongoing efforts originally set forth in the CAA can continue for at least another three years,” said Senator Menendez. “As this legislation moves to the full Senate, I look forward to continuing to work with New Jersey families, advocates, and my colleagues in the Senate on this bipartisan effort.”

Autism is the fastest-growing serious developmental disability in the country, affecting on average 1 in 110 children and 1 in 70 boys. In New Jersey, 1 in 94 children are affected with autism spectrum disorders, one of the highest rates in the nation. This year more children will be diagnosed with autism than with AIDS, diabetes and cancer combined.

‘All is done by Allah’. Understandings of Down syndrome and prenatal testing in Pakistan.

7 Sep

It is very interesting to see how disability is viewed in various cultures. Beyond academic interest, there is much we can all learn from each other. A recent paper looks at Down Syndrome and prenatal testing in Pakistan. The paper is ‘All is done by Allah’. Understandings of Down syndrome and prenatal testing in Pakistan.

To give you an idea of the study, here is the abstract:

Understanding the psychosocial impact of a congenital condition such as Down syndrome on affected individuals and their family requires an understanding of the cultural context in which they are situated. This study carried out in 2008 used Q-Methodology to characterize understandings of Down syndrome (DS) in Pakistan in a sample of health professionals, researchers and parents of children with the condition. Fifty statements originally developed for a UK study and translated into Urdu were Q-sorted by 60 participants. The use of factor analytic techniques identified three independent accounts and qualitative data collected during the Q-sorting exercise supported their interpretation. In two accounts, the ‘will of God’ was central to an understanding of the existence of people with DS although perceptions about the value and quality of life of the affected individual differed significantly between these accounts as did views about the impact on the family. The third account privileged a more ‘scientific worldview’ of DS as a genetic abnormality but also a belief that society can further contribute to disabling those affected. Attitudes towards prenatal testing and termination of pregnancy demonstrated that a belief in the will of Allah was not necessarily associated with a rejection of these technologies. Accounts reflect the religious, cultural and economic context of Pakistan and issues associated with raising a child with a learning disability in that country.

65 people were given cards with a number of questions and asked to sort them into a grid provided:

The method requires participants to consider and respond to a set of statements (the Q-set) using a ranking technique (a Qsort). Responding to the statements allows participants to express their viewpoint on things already written or said about the topic.

Example statements are: “A person with Down Syndrome will always be dependent on others” and “Children with Down Syndrome can achieve a great deal”. How they are sorted is then analyzed.

Some of the participants were removed from analysis. Of those remaining, some were parents and some were professionals:

Five Q-sorts were excluded from the analysis (4 parents, 1 health professional) due to concerns that these individuals had not understood the sorting procedure. The final sample of 60 comprised 26 parents of children with DS (14 mothers and 12 fathers), 28 health professionals/researchers (14 females, 14 males) and 6 female psychologists. The parents of children with DS reported occupations within the following groups: government service, domestic service, tailoring, teaching and ‘business’.

After analysis, the authors grouped the responses into three “accounts” of how Down Syndrome is viewed:

Account 1: a child with DS is ‘the will of God’ and a valued human being
Account 2: a child with DS is ‘the will of god’ but a burden to their family
Account 3: a person with DS is a genetic anomaly in a stigmatizing society

Even though “account 1” is classifies a person with Down Syndrome as “the will of god and a valued human being”:

Almost half of the parents in Account 1 expressed favourable attitudes towards abortion for the condition despite relaying positive experiences with their affected child. In the original UK based study no participant who had a close family member with DS expressed such views (Bryant et al., 2006).

Accounts 1 and 2 are from a mix of parents and professionals. Account 3 is from six professionals (two male doctors, a female doctor, a female psychologist and two women in related professions.)

The authors begin their conclusion with:

The findings of this study support those of previous research, for example, the stigma associated with having a disabled child in a Pakistani community, the co-existence of theological and biomedical explanations for disability, and the rejection of abortion on religious grounds for some, but not all Muslims.

If you will allow me, I will pull a couple of sections from the paper without added comment:

The view expressed by Item 20 (‘To know someone with DS enriches our understanding of what it is to be human’) was endorsed consistently across accounts. Participants’ comments suggested belief in a ‘higher purpose’ for the existence of people with DS; for example, “[It] makes us realize the true worth of being a normal human being” (22: female doctor, Account 1); “It reminds me of the unpredictability that is strongly associated with human life. It teaches the original meaning of what a Man is” (9: female doctor, Account 2); “Because it is something that makes us feel thankful to God” (10: female health professional, Account 3).

and

The origins of the word Islam refer to the act of submitting to the will of God, and a belief in the will of Allah as the determinant of the life-course is commonly held by Muslims (Murata & Chittick, 1994). Most participants in this study, with the exception of some of those exemplifying Account 3, strongly endorsed the item ‘If you have a child with DS it is because God chose you’ although interpretations of the will of God differed by account. Participants in Account 1 believed that Allah ‘sent’ children with DS as a blessing to parents, to be a source of learning and a means to develop a positive acceptance of His will. Participants in Account 2 expressed the view that Allah sent such children as a trial so that parents might learn forbearance and acceptance of God’s will through difficulty and sorrow.

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