???? MS?CCC-SLP?Sarah Stuntebeck??????Luke Fortney

?? October 1, 2013 #!31Fri, 31 Jul 2020 04:23:16 -0800p1631#31Fri, 31 Jul 2020 04:23:16 -0800p-4-08:003131-08:00x31 31am31am-31Fri, 31 Jul 2020 04:23:16 -0800p4-08:003131-08:00x312020Fri, 31 Jul 2020 04:23:16 -0800234237amFriday=3560#!31Fri, 31 Jul 2020 04:23:16 -0800p-08:007#31#!31Fri, 31 Jul 2020 04:23:16 -0800p1631#/31Fri, 31 Jul 2020 04:23:16 -0800p-4-08:003131-08:00x31#!31Fri, 31 Jul 2020 04:23:16 -0800p-08:007# ???


Autism itself is a biologically based disorder of brain development. This neurodevelopmental disorder is characterized by variable degrees of social and language deficits. Children with ASD demonstrate stereotypically restricted and repetitive behavior. Variants of ASD include conditions such as pervasive developmental delay (PDD) and Asperger disorder (AD). A 2012 Centers for Disease Control and Prevention (CDC) report estimates that of all autism diagnoses in the United States, 47% were PDD and 9% were AD.3 Comorbid conditions such as ADHD on the other hand are separate but appear to have a higher prevalence in ASD.



The pathophysiology of autism is without surprise not well understood. A genetic cause can be identified in only 20% of ASD cases, involving genes that converge on common pathways that alter synaptic homeostasis.7 There is good evidence to support the understanding that autism is characterized by inflammatory and abnormal neural connections, particularly underconnectivity of cortical systems leading to abnormal interhemispheric communication. With corroborating advanced imaging from fMRI, this abnormal brain function correlates well with many of the stereotypical behaviors seen in ASD.8

One of the most widely debated aspects of ASD is gastrointestinal (GI) dysregulation specifically conditions known as dysbiosis and increased intestinal permeability. However, the exact cause for increased prevalence of GI abnormalities in ASD is unknown. Up to one-third of children with autism exhibit some form of GI disorder clinically (e.g., constipation, abdominal pain, diarrhea, gastroesophageal reflux disease). The human gut is home to a dynamic and complex community of microbes that can profoundly influence nervous system growth and development.9 Many of the behavioral challenges associated with autism likely can be explained by gut dysfunction, noting that many autistic children have communication barriers and have challenges expressing their discomfort.


Along these lines, duodenal biopsies from 25 autistic children show increased lymphocytic proliferation and other immune abnormalities, indicating a possible autoimmune etiology.12 A separate study of 36 autistic children reported significantly higher levels of IgG, IgM, and IgA to food proteins such as casein and lactoglobulin compared to controls.13 An autoimmune etiology in ASD is supported by an epidemiological study showing that families affected by autism had 1.87 relatives with autoimmune disorders, which is significantly more common when compared to the general population, and surprisingly even more common than families affected by other common autoimmune diseases such as lupus and rheumatoid arthritis.14 Another study even found that 36.7% of autistic patients and 21.2% of their direct relatives demonstrated active leaky gut syndrome as compared to 5% of controls.15 These findings suggest an inheritable predisposition for ASD that, when triggered by environmental events, may play a key role in prevalence and severity.

The majority of published studies show a statistically significant benefit of a gluten-free/casein-free (GFCF) diet in ASD. However, specific characteristics of best and non-responders to GFCF intervention have not yet been elucidated. That some children benefit from this dietary intervention and others do not is likely due to variable ASD phenotypes.16 One striking case report in the literature reported significant benefits in a child with severe ASD, morbid obesity, and epilepsy, who after limited response to other interventions, was placed on a GFCF-ketogenic diet that used medium-chained triglycerides and a high intake of vegetables. Over the course of a few years, the child's Autism Rating Score went from severe to non-autistic, her intelligence quotient increased 70 points, and she became seizure-free with normal follow-up EEGs.17 Needless to say, in keeping with the favorable benefit-harm ratio, it is entirely reasonable for families affected by ASD to implement a GFCF diet.


ASD????????????????????????????????????????????????????????????? FDA???????1999????????????????EPA????????????????????????????????ASD?????????20??????????????????1000????????????61%?????21

There is ongoing concern about the growing chemical milieu that children are exposed to early in life. A well-known source of mercury exposure comes from amalgam fillings. However, whether there are any adverse health effects from this remains a subject of debate.22 While mercury is a well-known neurotoxin with no acceptable level of exposure, it is unproven as a significant cause of autism by itself. However, mercury may just be the tip of the iceberg. Children today are exposed to thousands of synthetic chemicals, with at least 200 being known neurotoxins and another 1000 demonstrating neurotoxicity in laboratory tests. According to the CDC s biomonitoring program, there are more than 100,000 chemicals commonly used every day in household cleaners, solvents, pesticides, food additives, lawn care, and other products. Every year another 1000 chemicals are introduced that do not take into account the mixtures and various combinations of commercial and consumer products to which people are exposed.23

Another alarming study found nearly 300 environmental toxins in the umbilical blood of neonates.24 Animal models show that even low levels of these toxins can negatively affect neurodevelopment. Indirect human evidence points to the sensitivity of the developing brain to lead, mercury, and other toxins. The strongest proof-of-concept evidence comes from research linking ASD to various chemical exposures in early pregnancy.25 Given this information, it is reasonable for parents and practitioners alike to follow the precautionary principle that states, When an activity raises threats of harm to human health or the environment, precautionary measures should be taken even if some cause and effect relationships are not fully established scientifically. 26

?????????????????????????????????????????????ASD?????????????????????????????????????????????????200???????DMSA?????????????????????????????????????27????????????????????????????????????????????28 ASD???????????????????????29?

Although children with ASD may be susceptible to even normal levels of mercury exposure, and although there are some data showing increased urinary output of toxic metals with use of chelating agents,30 evidence showing clinically beneficial outcomes from the use of chelating agents such as EDTA and DMSA is lacking.31 What s more, NIH-funded trials were halted prematurely due to ethical concerns.32 However, there are reasonable lifestyle approaches to help reduce toxic body burden for would-be-mothers and families with young children (see EWG link in resources).

MMR????????????????????????????????MMR??????????????33????????????????ASD??????????????????MMR??????????34?????????? ??? in 1998 that suggested a link in ASD with colitis and MMR vaccination35 was retracted in 2010 by the journal due to serious irregularities.36 An 8-year U.S. federal court process that finally ended in 2010 concluded that ASD was not caused by an adverse reaction to vaccination.37 To the contrary, it is now estimated that MMR vaccinations administered in the United States from 2001-2010 helped prevent more than 16,000 cases of congenital rubella syndrome a known cause of ASD which in turn helped prevent more than 6000 new cases of ASD during that 10-year period.38

??????????????????????????????????????CNN????????????????????????????39??????????????NPR???????????????????21?????????????????MMR?????? 40??????????????????????????1??????????39????????????????????????????????????????????????41?

Alternative childhood immunization schedules (ACIS) are one approach for families that refuse standard CDC vaccine schedules. Despite controversy of a well-known ACIS (the Sears alternative vaccine schedule42), a recent survey of 517 families in Washington found that this approach did not predominate, with only 9.4% of parents reporting use of ACIS.43 The real advantage of offering ACIS to concerned parents is not about efficacy or promoting a better or worse vaccination schedule, but rather in establishing a trusting relationship while ensuring eventual full immunization and protection for children.

Although the cause(s) of autism are unknown, there are reasonable and effective treatments for ASD. The most common, and arguably the most effective approaches address behavioral, communication, and social deficits. Early screening during routine well-child exams can identify signs of ASD, which in turn should lead to initiation of speech-language therapy (see NICHCY link in resources). Effective services should vary with individual children, depending on the child's age, cognitive level, language skills, behavioral needs, and family priorities. With some children, it is appropriate to incorporate augmentative and alternative communication (AAC), such as the Picture Exchange Communication System, other high- and low-tech assistive technology tools, and/or sign language. A meta-analysis of single-case research studies indicates strong effects for the use of AAC on communication skills. Although effect sizes should be interpreted cautiously due to the small number of studies, social skills, challenging behaviors, and spelling also appear to be positively affected.44

Although behavioral intervention methods appear to have a positive impact on learning, communication, and behavior in children with ASD, intervention studies suffer from methodological problems that make it difficult to form definitive conclusions regarding efficacy. That being said, there is evidence to support the use of applied behavioral analysis for functional skills development, and there are clear benefits of Lovaas therapy compared to no treatment. Furthermore, increased therapy intensity is known to be more effective than no- or low-intensity therapy. The National Research Council suggests that young children with ASD should receive at least 25 hours of individualized and structured intervention per week, 12 months a year.45 In general though, as no definitive behavioral or developmental intervention improves all symptoms for every child, it is recommended that therapy management be guided by each child's needs and availability of resources.46

Other common and effective behavioral therapies include Greenspan s Floortime and Developmental Individual Difference Relationship Model, which incorporates play activities with an emphasis on emotional development. Relationship Development Intervention is a parent-based treatment approach that works to improve social skills, adaptability, and self-awareness skills. Social Communication/Emotional Regulation/Transactional Support uses practices from a variety of other approaches in order to promote child-initiated communication and skills in a variety of settings.

Although there are anecdotal reports of benefits from sensory motor interventions, such as sensory integration therapy or use of a sensory diet, results are limited and inconsistent. A review of auditory integration therapy by the American Speech-Language and Hearing Association concluded that efficacy standards for use by audiologists and speech-language pathologists are not yet available. At this time, families should pursue these therapies with some skepticism until further research can be conducted.47 n

1. Al-Ayadhi L, et al. Role of proteomics in the discovery of autism biomarkers. J Coll??Surg Pak 2013;23:137-143.

2. Thompson T. Autism research and services for young children: History, progress, and challenges. ?????? 2013;26:81-107.

3. Centers for Disease Control and Prevention. Prevalence of autism spectrum disorders Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ 2012;61:10.

4. Blumberg S, et al. Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011-2012. ???????? 2013;65:1-11.

5. CDC: National Center on Birth Defects and Developmental Disabilities: How Many Children Have Autism Available at: www.cdc.gov/ncbddd/features/counting-autism.html. Accessed Sept. 2, 2013.

6. El-Fishawy P, State MW. The genetics of autism: Key issues, recent findings, and clinical implications. ???????? 2010;33:83-105.

7. Delorme R, et al. Progress toward treatments for synaptic defects in autism. ????? 2013;19:685-694.

8. Minshew NJ, Keller TA. The nature of brain dysfunction in autism: Functional brain imaging studies. Curr Opin Neurol 2010;23:124-130.

9. Mulle JG, et al. The gut microbiome: A new frontier in autism research. Curr?????? 2013;15:337.

10. Sandler RH, et al. Short-term benefit from oral vancomycin treatment of regressive-onset autism. ??????? 2000;15:429-435.

11. Souza NC, et al. Intestinal permeability and nutritional status in developmental disorders. ???????? 2012;18:19-24.

12. Torrente F, et al. Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive autism. ???? 2002;7:375-382.

13. Lucarelli S, et al. Food allergy and infantile autism. Panminerva Med 1995;37:137-141.

14. Sweeten TL, et al. Increased prevalence of familial autoimmunity in probands with pervasive developmental disorders. ?? 2003; 112?e420?

15. de Magistris L, et al. Alterations of the intestinal barrier in patients with autism spectrum disorders and in their first-degree relatives. ??????? 2010;51:418-424.

16. Whiteley P, et al. Gluten- and casein-free dietary intervention for autism spectrum conditions. ??????? 2013;4:344.

17. Herbert MR, et al. Autism and dietary therapy: Case report and review of the literature. ??????? 2013;28:975-982.

18. Kawicka A, et al. How nutritional status, diet and dietary supplements can affect autism. A review. Rocz Panstw Zakl Hig 2013;64:1-12.

19. Critchfield JW, et al. The potential role of probiotics in the management of childhood autism spectrum disorders. ????? 2011; Epub 2011; 10?26??

20. Madsen KM, et al. Thimerosal and the occurrence of autism: Negative ecological evidence from Danish population-based data. ?? 2003? 112?3 Pt 1??604-606?

21. Palmer RF, et al. Environmental mercury release, special education rates, and autism disorder: An ecological study of Texas. ???? 2006;12:203-209.

22. Park JD, Zheng W. Human exposure and health effects of inorganic elemental mercury. ?????? 2012;45:344-352.

23. CDC Agency for toxic substances and disease registry. Available at: www.atsdr.cdc.gov/risk/cancer/cancer-laboratory.html. Accessed Sept. 3, 2013.

24. Environmental Working Group: Body Burden: The Pollution in Newborns. A Benchmark Investigation of Industrial Chemicals, Pollutants, and Pesticides in Umbilical Cord Blood 2005. Available at: www.ewg.org/research/body-burden-pollution-newborns. Accessed Sept. 8, 2013.

25. Landrigan PJ. What causes autism Exploring the environmental contribution. Curr Opin?? 2010;22:219-225.

26. Precautionary Principle. Available at: www.sehn.org/precaution.html. Accessed Sept. 3, 2013.

27. Bradstreet J, et al. A case-control study of mercury burden in children with autistic spectrum disorders. ?????? 2003;8:76-82.

28. Albizzati A, et al. Normal concentrations of heavy metals in autistic spectrum disorders. ????? 2012;64:27-31.

29. Woods JS, et al. Urinary porphyrin excretion in neurotypical and autistic children. ???? 2010;118:1450-1457.

30. Blaucok-Busch E, et al. Efficacy of DMSA therapy in a sample of Arab children with autistic spectrum disorder. ?? ?????2012; 7?214-221?

31. Wadman M. Autism study panned by critics. ?? 2008;453:259.

32. Mitka M. Chelation therapy trials halted. ?? 2008;300:2236.

33. Mrozek-Budzyn D, et al. Lack of association between measles-mumps-rubella vaccination and autism in children: A case-control study. ?????? 2010;29:397-400.

34. Gentile I, et al. Response to measles-mumps-rubella vaccine in children with ASD. ?? 2013;27:377-382.

35. Wakefield A, et al. Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. ??? 1998;351:637-641.

36. Harris G. Journal retracts 1998 paper linking autism to vaccines. ????. Available at: www.nytimes.com/2010/02/03/health/research/03lancet.html _r=0. Accessed Sept. 8, 2013.

37. Kirkland A. Credibility battles in the autism litigation. ???? 2012;42:237-261.

38. Berger BE, et al. Congenital rubella syndrome and autism spectrum disorder prevented by rubella vaccination United States, 2001-2010. BMC???? 2011;11:340.

39. CNN Health. US measles cases in 2013 may be most in 17 years. Available at: www.cnn.com/2013/09/12/health/worst-measles-year/index.html hpt=he_c2. Accessed Sept. 3, 2013.

40. NPR News. Texas megachurch at center of measles outbreak. Available at: www.npr.org/2013/09/01/217746942/texas-megachurch-at-center-of-measles-outbreak. Accessed Sept. 3, 2013.

41. Holler K, et al. I've heard some things that scare me. Responding with empathy to parents fears of vaccinations. ?? 2012;109:10-13.

42. Offit PA, et al. The problem with Dr. Bob s alternative vaccine schedule. ?? 2009;123:164-169.

43. Opel DJ, et al. Use of alternative childhood immunization schedules in King County, Washington, USA. ?? 2013; 8?24??pii?S0264-410X?13?01127-4? doi?10.1016 / j.vaccine.2013.08.036? [Epub????]?

44. Ganz JB, et al. A meta-analysis of single case research studies on aided augmentative and alternative communication systems with individuals with autism spectrum disorders. ????? 2012;42:60-74.

45. Educating Children with Autism. Lord & McGee, eds Washington DC. National Academy Press, National Research Council. Division of Behavioral and Social Sciences. 2001.

46. Ospina MB, et al. Behavioural and developmental interventions for autism spectrum disorder: A clinical systematic review. ??? 2008; 3?e3755?

47. American Speech-Language-Hearing Association. Auditory integration training Position Statement. Available at: www.asha.org/policy. Accessed Sept. 8, 2013.

Stuntebeck??????????????????????????????? Fortney????????????Meriter Medical Group??????????