1. Neurological and Medical Conditions Associated with Autism Leslie Rubin MD Morehouse School of Medicine Developmental Pediatric Specialists Innovative Solutions for Disadvantage and Disability Southeast Pediatric Environmental Health Specialty Unit at Emory University

2. Autism is viewed as a genetically determined neurodevelopmental disorder

3. Risks and Causes of Autism

4. Patches of Disorganization in the Neocortex of Children with Autism Molecular analysis of postmortem samples of brain tissue obtained from 11 children with autism showed that the prefrontal and temporal cortexes in 10 of these children had patches of neuronal disorganization. Stoner R., et al. N Engl J Med 2014; 370:1209-1219

5. Patches of Disorganization in the Neocortex of Children with Autism We found a novel aspect of cortical development which points directly and clearly to autism beginning during early pregnancy By the second trimester, fetal brain cells are making complex connections Assembly patterns and connections perform unique roles in processing information. Stoner R., et al. N Engl J Med 2014; 370:1209-1219

7. Neuropathological Findings in Autism Cerebellum (21 of 29 studied cases showed a decreased number of Purkinje cells, and in all of five cases that were examined for age-related morphological alterations, these changes were found in cerebellar nuclei and inferior olive) Limbic system (9 of 14 studied cases showed increased cell packing density and smaller neuronal size), Cerebral cortex (>50% of the studied cases showed features of cortical dysgenesis). Saskia J. M. C. Brain Volume 127, Issue 12Pp. 2572-2583 2004

9. Cerebellum The cerebellum accounts for approximately 10% of the brain’s volume, it contains over 50% of the total number of neurons in the brain. The cerebellum is most understood in terms of motor control, it contributes to coordination, precision, and accurate timing It may also be involved in some cognitive functions such as attention and language, and in regulating fear and pleasure response

11. Limbic System The limbic system is a complex set of structures that includes the hypothalamus, the hippocampus, the amygdala, and other nearby areas. It supports a variety of functions, including emotion, behavior, motivation, long-term memory, and olfaction. It appears to be primarily responsible for emotional life, and it has a great deal to do with the formation of memories.

13. Neurological Disorders Intellectual Disabilities Seizure Disorders Processing Disorders Learning Disabilities Attention Disorders Emotional Disturbances Challenging Behaviors Motor Disorders Sleep Disturbances

14. Intellectual Disability

15. Seizures While 1-2% of children in the general population develop epilepsy, The prevalence of epilepsy in ASD is much higher with estimates varying widely from 5% to 38%. Specific genetic and metabolic syndromes are associated with both ASD and seizures e.g. Neurofibromatosis Evaluation with EEG and MRI and Genetic Studies where appropriate Treatment with antiepileptic medication Be vigilant about side effects of medication

16. Processing Cognitive Processing Vision Hearing Touch Taste Proprioception Balance

17. The Process of Cognition Cognition is the process by which the sensory input is transformed, reduced, elaborated, stored, recovered, and used. In science, cognition is the mental processing that includes the attention of – working memory, – comprehending and producing language – Calculating and reasoning – problem solving and decision making

20. Cognitive Processing

21. Cognitive Processing and Learning Disabilities

22. Sensory Processing

23. Sensory Processing at Home and at School

24. Attention Disorders Autism and ADHD occur together far more than chance would suggest. The overlap of ADHD symptoms and autism symptoms may create diagnostic confusion Children under stress, due to learning disabilities, anxiety, depression, or sensory integration problems, may exhibit the same symptoms. Population data are scarce, but about 30 percent of children with autism meet the criteria for ADHD Some children who are diagnosed with ADHD when they are young may manifest symptoms of ASD as they grow

25. Emotional Reactions Anxiety can be high! Need order and predictability Limited vocabulary and ability to communicate emotions and feelings Limited ability to manage emotions, especially frustration

26. Behavior Reactions If stressed…….. Withdraw into solitude and their special interest Autonomic reactions – Fight, fright or flight Dramatic emotional reactions to relatively minor frustrations, disappointments or changes in routine Panic responses and Tantrums

27. Motor Disorders Hypotonia and ligamentous laxity – Affects posture – Flat feet with pronation Coordination and organization – Fine motor e.g. writing – Gross motor e.g. playing soccer – Toe walking – motor vs sensory Stereotypic movements – Usually hand and finger Tics and Tourette’s about 6x more likely

28. Sleep problems in children with Autism (AD), & Typically Developing (TD) There is a high prevalence of sleep problems with significantly more problems reported in the autism group (TD = 50%, autism = 73%, AD = 73%) The autism group reported significantly better treatment success for medication compared to the TD group. The autism group reported significantly better success for behavioral treatment compared to the Asperger group.. Polimeni and Richdale Journal of Intellectual Disability Research 49:260 2005

29. Sleep Problems Difficulty falling asleep53 Restless sleep40 Unwillingness to fall asleep in own bed 39 Frequent awakenings33 Difficulty arousing31 Enuresis27

30. Effects of Poor Sleep on Children with Autism Aggression Depression Hyperactivity Irritability Poor Learning and Cognitive Performance Increased Behavioral Problems

31. Approach to Management of Sleep Disorders Good History to rule out medical conditions Explore emotional situation Explore environmental factors Good Physical Examination Keep a Sleep Graph for at least 2 weeks Sleep Study only if necessary

34. Nutrition and Gastrointestinal Disorders Eating and appetite – Sensory – Motor Diet and Supplements – Enough nutrition to grow – Enough micronutrients to function Concern about gastroesophageal reflux Toilet training and bowel control Concern about constipation Celiac Disease and Gluten Sensitivity

35. Nutrition and Gastrointestinal Disorders No difference in frequency of symptoms compared with typically developing children Although children with ASD were more likely to have constipation or feeding issues these resulted from ASD- related behaviors rather than true GI disorders Concurrent GI disorders can contribute to their behavior Caution against the indiscriminate use of restrictive diets, vitamin and mineral supplements Ibrahim, et al. Pediatrics. August 2009.

36. Gastrointestinal Problems in Children with Autism Parents of nearly 1,000 children (between the ages of 24 and 60 months) in North Carolina filled out two questionnaires. Children with autism were six to eight times more likely to have food sensitivities, bloating, constipation and diarrhea than typically developing children. Children with developmental delays suffered five times as much constipation and were much more likely to have problems with swallowing. The researchers also point out that hyperactivity and repetitive behavior may be coping mechanisms for physical discomfort. They believe that autistic children may benefit from a full GI evaluation, especially if they lack verbal skills. It is possible that treatments that improve digestion may lead to an improvement in problem behaviors. Chaidez, et al Journal of Autism and Developmental Disorders November 2013

37. The Microbiome The human body contains over 10 times more microbial cells than human cells, although the entire microbiome only weighs about 7 ounces The microbiota provide a wide range of metabolic functions that humans lack They play a critical role on health and disease

38. Summary Autism is a neurological condition with genetic determinants Many symptoms of Autism have a neurological basis and should be addressed symptomatically Parents need a medical home for their children Children need appropriate therapies, education, recreation and social opportunities Medical needs are fulfilled by Primary Care Pediatricians with specialty care if necessary

39. Thank you….. Thank you……