Autism Spectrum Disorders – Are they really epidemic?

AimThe aim of this paper is to report on how different external methodological factors influence estimates of ASD prevalence.MethodsPubMed searches was conducted using the search terms, “Autism”, “Autistic Disorder”, “Autism Spectrum Disorders”, “Asperger”, “Prevalence” and “epidemiology”, in combination. In total 49 studies were included. We also performed a manual search for and reviewed related articles referenced in the original articles.ResultsThe reported prevalence rates of ASD vary widely, and so do the methodology used in the studies.ConclusionThere are reasons to argue that the methods used in some studies cause the high prevalence rates reported recently.     

How Prepared Are They? Pediatric Boot Camps and Intern Performance

ObjectiveTo determine whether participation in a pediatric boot camp during medical school was associated with higher intern performance. Secondary objectives were to determine whether participation in general boot camps, pediatric subinternships or pediatric electives was associated with higher performance.MethodsIntern surveys and faculty performance assessments during early internship were collected from a convenience sample of pediatric residency programs. Interns completed a survey regarding participation in medical school boot camps, pediatric subinternships and pediatric electives. Faculty assessed intern performance on selected Milestone-based subcompetencies on a 5-point scale following each intern's initial inpatient rotation and results were compared between groups.ResultsSeventeen pediatric residency programs participated. Two hundred eighty-seven interns completed the survey (69%), and faculty completed assessments on 71% of these interns. Of interns with complete faculty assessments (n = 198), 25% participated in 5 or more days of pediatric boot camp, 30% in general boot camp, and 45% in no boot camp. There were no educationally significant associations between participation in 5 or more days of pediatric boot camp, general boot camp, subinternships, or electives and intern performance. Interns completing at least 10 days of pediatric boot camp (n = 25) had slightly higher ratings for incorporating feedback and engaging in help-seeking behavior during June and July only.ConclusionsParticipation in pediatric boot camps, general boot camps, pediatric subinternships or electives was not associated with substantially higher intern performance as measured by selected Milestone subcompetencies. Pediatric educators should carefully consider boot camp curricula and anticipated outcomes associated with boot camp participation.     

Prevalence and Spectrum Diseases Predisposing to Sudden Cardiac Death: Are They the Same for Both the Athlete and the Nonathlete?

Sudden cardiac death (SCD) is a rare but devastating event among young people. The precise scale of the event remains undefined. This uncommon but catastrophic event usually is proved to be the consequence of varied unsuspected congenital or acquired cardiovascular diseases. Hypertrophic cardiomyopathy and coronary artery anomalies are the two most frequent causes of SCD. Most commonly, SCD resulting from these diseases occurs during or immediately after exercise. This report highlights the prevalence and spectrum of SCD-predisposing diseases and how they are affected by athletic participation. In addition, disease-specific guidelines for sports participation are addressed.     

Newborn screening in Canada – Are we out of step?

OBJECTIVES

To review the status of universal newborn screening programs in Canada.

METHODS

A brief questionnaire (seven questions) was circulated to one key individual in each province (n=10) and territory (n=3). These individuals were usually physicians or clinical biochemists closely involved in the diagnosis and treatment of genetic metabolic diseases.

RESULTS

Universal newborn screening is under provincial jurisdiction. The number of diseases screened for varies and ranges from three to 28. Nine provinces/territories have a central computerized system for tracking initially positive cases. Only five provinces/territories have adequate personnel and resources for follow-up and treatment. Treatment costs are only partially covered in most jurisdictions. Only five provinces/territories have formal advisory committees with official mandates. Expensive, restricted access treatment products for adults with inherited metabolic diseases are only fully available in six provinces/territories. There is very limited access to these products in an additional four provinces/territories. To date, specific informed consent for newborn screening is not required in any province or territory.

CONCLUSIONS

Canada is far behind the rest of the developed (and some ‘emerging’) countries of the world in the field of universal newborn screening. New strategies for advocating expanded screening, follow-up and (long-term) payment of treatment costs on behalf of the potentially affected infants and their families must be devised, and such initiatives should include participation from the new Public Health Agency of Canada.     

Clinical and Genetic Analysis of Long QT Syndrome in Children from Six Families in Saudi Arabia: Are They Different?

Congenital long QT syndrome (LQTS) is an inherited cardiac arrhythmia disorder characterized by prolongation of the QT interval; patients are predisposed to ventricular tachyarrhythmias and fibrillation leading to recurrent syncope or sudden cardiac death. We performed clinical and genetic studies in six Saudi Arabian families with a history of sudden unexplained death of children. Clinical symptoms, ECG phenotypes, and genetic findings led to the diagnosis of LQT1 in two families (recessive) and LQT2 in four families (three recessive and one dominant). Onset of arrhythmia was more severe in the recessive carriers and occurred during early childhood in all recessive LQT1 patients. Arrhythmia originated at the intrauterine stages of life in the recessive LQT2 patients. LQT1, causing mutation c.387-5 T > A in the KCNQ1 gene, and LQT2, causing mutation c.3208 C > T in the KCNH2 gene, are presumably founder mutations in the Assir province of Saudi Arabia. Further, all LQTS causing mutations detected in this study are novel and have not been reported in other populations.     

Autism Spectrum Disorders — Diagnosis and Management

Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk. Comprehensive assessment comprises of a step-wise approach that includes taking a detailed history, performing a holistic examination and observing the child closely in relation to play, social interaction and behavior. Diagnosis is established by application of the diagnostic criteria for ASD of the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM V). The degree of severity, intellectual and language impairment and presence of other illnesses should be specified. Functional assessment identifies an individual’s strengths and weaknesses. All these are important to formulate a customized intervention plan along with the family. The goal is to build up skills enabling optimal and as far as possible normal functioning while simultaneously reducing maladaptive behavior. This is achieved by a multi-disciplinary team comprising of various personnel experienced in tackling issues in ASD related to their respective areas of expertise. Intervention is primarily non-pharmacological, based on behavioral modification strategies. Drugs are only indicated in the reduction of target symptoms refractory to behavioral intervention. Although there is no cure, timely and appropriate intervention can improve the quality of life significantly.     

Disclosing Study Information to Children and Adolescents: Is What They Want,What Their Parents Think They Want?

Objective

Despite the importance of child assent, there is little consensus on what information should be disclosed and what information is most important to children for decision-making. This study was designed to compare children's/adolescents' priorities for research information with the information parents believe is most important to their children.

MMR: marginalised,misrepresented and rejected? Autism: a focus group study

Objective

To explore how the measles, mumps, and rubella (MMR) vaccine controversy impacted on the lives of parents caring for children with autism.

Design

Qualitative focus group study.

Setting

United Kingdom.

Patients

A purposively selected sample of 38 parents took part in 10 focus group discussions between March 2003 and May 2005.

Results

Many parents felt that the MMR vaccine could be too potent for children who are susceptible to developing autism. Of the parents whose children received the MMR vaccine, many felt guilty that they may have caused or contributed to their child''s autism. Some parents felt frustrated by health professionals'' lack of understanding of the negative impact the MMR controversy has had on them. Some parents were anxious about subsequent MMR decision‐making for their children.

Conclusions

The controversy has had a negative impact on some parents of children with autism. This has implications for health professionals, who need to be particularly aware of the issues these parents face in future MMR decision‐making for their affected child and younger siblings. It is anticipated that these findings will raise awareness among health professionals of the difficulties faced by such parents. More generally, there is a need to promote a greater awareness of the important role health visitors can play in parental decision‐making and for research examining whether health professionals feel they receive sufficient training in communication skills. It is also essential that the latest scientific research findings are disseminated quickly to these parents and to those health professionals advising parents on matters of vaccine safety.The combined measles, mumps, and rubella (MMR) vaccine was introduced in the United Kingdom (UK) into the routine childhood immunisation programme in 1988, replacing the monocomponent measles vaccine, in order to eliminate measles, mumps and rubella and its associated congenital rubella syndrome.^1,2,3 By the early 1990s, MMR coverage for 2 year old children exceeded 90% nationally.⁴ However, just as rates of measles notification were reaching an all time low, speculation about the safety of the vaccine began to emerge. In February 1998, a paper was published postulating a link between the MMR vaccine, bowel disease and autism.⁵ Wakefield and colleagues hypothesised that the vaccine caused inflammation of the gut making it more permeable, permitting peptides to leak out, which in turn were said to act as toxins on the brain causing serious developmental disorders (including autism). The paper sparked immediate criticism and concern,^6,7,8,9 and researchers were quick to test Wakefield''s hypothesis. However, subsequent scientific support has been absent,^10,11 and further experiments designed to identify the measles virus in intestinal tissue¹² or blood¹³ have failed to find vaccine viruses. Furthermore, researchers have been unable to identify significant intestinal inflammation post‐vaccination¹⁴; large epidemiological studies have found no evidence of a new form of autism associated with MMR^15,16; there is no evidence of an increased incidence of autism related to the uptake of the MMR or measles vaccines^17,18; studies investigating severe adverse reactions to the MMR vaccine conducted in Finland^19,20 have failed to identify bowel problems or autism following vaccination; and a recent Cochrane review concluded that exposure to MMR was unlikely to be associated with autism.²¹

Box 1 Examples of parents comparing the general health of their children with and without autism

“they''re like chalk and cheese, she''s a much stronger child, she, she never had a thing where he was just sickly from day one. He''s always been a sickly child… he was always covered in spots, he was always on antibiotics, he always had tonsillitis, erm… he''s always had bowel problems, em…. He''s always had loads and loads of antibiotics. He''s got asthma and eczema, erm, so he''s always been on creams and lotions and potions and God knows what else. He''s got food allergies.… He''s very, very sensitive to whatever goes in his body. But as for our daughter she''s a much stronger child.” (G3: P9)“… his immune system is shot to pieces…. He, he does seem to be one of these children who follows the, the path for antibiotics and then vaccinations and then autism. When he gets a cough or a cold he seems to have it much, much longer whereas my other son can carry on functioning and going to school. But he just gets really ill… it puts him into hospital…. I actually asked the consultant before he discharged him last time. I said ‘you know, he does seem to be poorly a lot of the time, you know and he does have autism and I think there''s a link between his autism and his immune system'' and the consultant said ‘no, that''s absolutely not true, there''s no correlation between autism and the immune, his immune system''. He dismissed it – so I said ‘well okay'' but I just felt that I had to say something.” (G10: P36)Despite government and public health officials acting quickly to reassure parents that the MMR vaccine was not associated with autism, vaccine uptake dropped following the widespread media coverage of the MMR vaccine controversy (see: http://www.hpa.org.uk/infections/topics_az/vaccination/071102_MMRpreferable.htm). Recent research has investigated parents'' reasons for refusing the MMR vaccine and their perceptions of the MMR controversy. Evans and colleagues suggested that for many parents it is easier to live with the risk of their child naturally contracting one of the diseases than with the risk of causing their child damage through vaccination,²² a finding reminiscent of previous work on omission bias.^23,24 Raithatha et al²⁵ highlighted how parents'' assessment of vaccine risk is influenced by their attitudes to the immunisation process as well as by the degree of trust they have in government and health professionals. They warned that the MMR controversy may have triggered a broader reappraisal of vaccine risk, and proposed that in order to address parents'' fears about a causal link between autism and the MMR vaccine, further research into the aetiology of autism should be conducted. This was echoed in the recommendations from the Medical Research Council''s (MRC) review of autism research.²⁶Despite this growing evidence base on parental views of decision‐making about MMR,^22,23,24 there is a notable absence of scientific research reporting the views of one crucial group of parents, namely those caring for children with autism. To date their stories have been represented by journalists^27,28 or through a few books in which parents offer their personal accounts.^29,30,31,32 Horton³³ asserted that parents of children with autism: “… have become an even more marginalized group in the high‐temperature debate over Wakefield''s work” (p 92).

Box 2 Example of a mother recalling an adverse reaction to MMR vaccination

“He was ill. You know, when they''re really, really poorly and they''ve a temperature and they''ve just got that look of, I''m not here, that''s scary as a parent, you''re scared. And then when he finally kind of awoke, you know, he had the deadest eyes, it was like all the life had gone from his eyes. It was like before he was like a wee boy, twinkly eyes and after it, it was like the same eyeballs but as if, the glare had been taken out of them or something.” (G1: P1)Since the putative link with autism was central to the MMR controversy, it is important to understand the views of parents of children with autism both in terms of the impact of the controversy on them, and in determining whether the controversy has given rise to particular needs for information and support. We undertook a study to elicit the views of this neglected group of parents to develop a better understanding of how the MMR controversy impacted upon their lives, and to discover whether their experience can provide lessons for future immunisation policy and practice.     

What Procedures Are Important to General Pediatricians and Why?

Background/ObjectivePediatric residents must demonstrate competence prior to graduation in Accreditation Council for Graduate Medical Education (ACGME) required procedures. Recent literature shows general pediatricians (GPeds) infrequently perform these procedures yet believe them important to learn. The purpose of this study was to determine why GPeds believe learning procedures was important, what barriers prevent them from developing and maintaining procedural skills, and what procedures they believe should be included in training.MethodsFifty-one GPeds from the American Board of Pediatrics General Examination Committee and the central Ohio region participated in 30-minute semistructured recorded phone interviews that probed their use of procedures across training and current practice. Participants represented urban, suburban, and rural geographic regions and practiced in a variety of settings. We conducted a thematic analysis of transcribed interviews.ResultsGPeds believed currently required ACGME procedures were crucial to learn for 5 reasons: 1) adaptation to change in practice type or location, 2) emergency preparedness, 3) counseling patients and families, 4) distance from a tertiary care center and specialists, and 5) professional identity as a pediatrician. Numerous barriers, particularly never learning the procedures, prevented GPeds from performing procedures in practice. Recommended procedures to be taught included high- (eg, circumcision), and low-risk (eg, cerumen removal, nasopharyngeal swabs, umbilical cauterization) skills.ConclusionsGPeds believed procedural training was important, however may never have learned certain procedures. These findings suggest that teaching methods should be adapted or customized procedural education should be implemented to ensure relevancy of skills learned for clinical practice.