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Understanding the Medical Comorbidities of Autism
By: Sheri A. Marino, MA, CCC-SLP
Focus For Health Foundation
Disclaimer
1. I am a Speech Pathologist.
2. This should be a full day presentation.
3. I am from NJ
Course Objectives
1. To engage you in dialogue about autism outside of the DSM, considering a paradigm shift to a medical model.
2. To help your recognize the early medical warning signs that may express themselves long before the developmental warning signs.
3. To help you recognize the underlying medical conditions that could be impacting educational and therapeutic outcomes.
4. To get you collaborating, talking to each other, to parents, professionals, and doctors.
5. To help you prevent anymore unnecessary suffering that children with autism often experience because of unrecognized medical conditions.
My Evolution in Autism
S Douglass Developmental Disabilities Center
S Milestones Early Intervention and Expansion Team
S Private Practice S NJ/NY/London
S Rocking Horse Rehab
S Autism Think Tank
S Focus For Health Foundation
History of Autism
S 1908- “Autism” was used to describe Schizophrenic patients
S 1943- Leo Kanner, MD coined the term “early infantile autism”
S 1944- Scientist, Hans Asperger describes milder symptoms as “Asperger’s Syndrome
S 1967- Psychologist Bruno Bettelheim describes “refrigerator mothers”
S 1977- Research shows a genetics and biological differences in brain development
S 1980- Pervasive Developmental Disorder is listed in the Diagnostic Statistical Manual of Mental Health Disorders (DSM III)
S 1987- DSM replaces “infantile autism” with a broader definition of “autistic disorder” and PDD-NOS
DSM IV vs. DSM V
DSM IV
S Pervasive Developmental Disorder:
S Autism
S Asperger disorder
S Rett syndrome
S Childhood disintegrative disorder
S PDD-NOS
DSM V
S Autistic Spectrum Disorder:
Removes:
S Rett syndrome
S Child disintegrative disorder
Merges:
S PDD-NOS
S Asperger syndrome
S Autism
Getting Closer in the DSM V
S One diagnosis with variable and descriptive factors
S Severity of ASD symptoms
S Verbal abilities
S Cognitive abilities
S Inclusion of specifiers such as “Associated with Known Medical or Genetic Condition or Environmental Factor”
Common Symptoms
S Delayed or lack of speech
S Poor eye-contact
S Obsessive desire for sameness/rituals
S Lacks social skills/emotional reciprocity
S Mal-adaptive behaviors
S Echolalia
S Sensory Processing Disorder
S Self-stimulatory behaviors i.e. hand flapping
S Picky eater
Common Medical Symptoms
Case Study 1
Case Study 2
Case Study 3
All Systems Impact
Neurology
Sensory Motor
S Genetics
S Seizures
S PANDAS
S PICA
S Mitochondrial Disorders
S Metabolic Disorders
Medical
S Tactile
S Visual
S Auditory
S Self-regulation
S Vestibular
S Proprioceptive
Sensory Processing Disorder
Sensory Processing Disorder
Tactile
Visual
Auditory
Auditory Processing
Difficulties
Vision
Problems Aversions to or Seeks Textures
Self-Regulation
Poor Sleeper Poor Sensory
Modulation
Inability to
Self-Soothe
Vestibular
Proprioceptive
Low Tone Poor Motor Planning
SPD Signs and Symptoms
Sensitivity to sounds
Covers ears
Increased behaviors
Headaches
Language processing difficulties
Poor eye contact
Poor eye/hand coordination
Sensitivity to light
Poor spatial awareness
Looks at objects peripherally
Refusal to wear certain clothing
Irritated by clothing tags
Refusal to walk on sand/grass
Picky eater
Seeks certain objects
Difficulty falling asleep
Difficulty staying asleep
Irritability
Attention and learning affected
Hypo/hyper activity
Self-Stimulatory Behaviors
Difficulty establishing attention
Difficulty maintaining attention
Risky behavior bolting and elopement
Inactivity- weight gain
“Colicky” baby
Needs the “Mommy Dance” or a
car ride to calm
Difficulty with transitions
Feels floppy
Loose in joints
Not necessarily weak
Trips/falls
Steps on toys
Spills
Difficulty using utensils
Genetics
DNA Genomes
Micro-array
Recent studies
Pharmacogenetics
Seizures
Symptoms • Body convulsions
• Body part tremors
• Eye-gaze/staring
• Aura
• Decrease in Muscle Tone
• Lip smacking
PANDAS Pediatric Autoimmune Neuropsychiatric Disorders Associated with Strep Infection
Symptoms: Sudden onset of;
OCD
Motor or vocal tics Separation Anxiety
Generalized anxiety Motoric hyperactivity/restlessness
Abnormal movements
Concentrations difficulties Sensory abnormalities/food restrictiveness
Developmental regressions Food intolerances
Irritability Frequency of urination and bedwetting
Behavioral changes/tantrums Sleep disturbances
Handwriting deterioration
PICA
Symptoms
S PICA is an appetite for primarily non-nutritive substances such as chalk, paper, dirt etc. as well as some food substances such as starch and flour.
Causes
S Neurological
S Biochemical deficiencies
S Acquired Taste
S Sensory Seeking
S Cognitive Deficits
Metabolic Disorders
Energy
Protein
Carbo-hydrates
Sugars
Fats
S Metabolism is the body’s ability to convert the food we eat into energy sources
S A metabolic disorder occurs when the body cannot convert these foods and we end up with too much or too little essential nutrients for our body to function
Mitochondrial Disorder Symptoms:
• Language and social impairment
• Neuropsychiatric symptoms (ADHD, anxiety, OCD, depression)
• Seizures
• Weakness or low tone
• Fatigue
• Gastrointestinal issues
• Plateaus or aggressions
Allergy/Immunology
S Food Allergies/Sensitivities
S Eczema
S Seasonal Allergies/Asthma
S Ear infections
S Candida Overgrowth
Food Allergies
Symptoms
• Tingling or itching in the mouth.
• Hives, itching or eczema.
• Swelling of the lips, face, tongue and throat or other parts of the body.
• Wheezing, nasal congestion or trouble breathing.
• Abdominal pain, diarrhea, nausea or vomiting.
• Dizziness, lightheadedness or fainting
Eczema
Symptoms • Dry, sensitive skin
• Intense itching • Red, inflamed skin
• Recurring rash • Scaly areas
• Rough, leathery patches • Oozing or crusting
• Areas of swelling
• Dark colored patches of skin (National Eczema Association)
Seasonal Allergies/ Asthma
Symptoms • Sneezing
• Wheezing
• Itchy watery eyes
• Asthma
Allergy Testing and Treatment Allergy Testing • Skin vs. Blood Tests • IgE and IgG Antibodies
Treatment • Elimination Diets • Antihistamines and
Decongestants • Allergy Shots • Nasal Spray
Side Effects • Stimulants can lower seizure threshold
Ear Infections
Symptoms
• Irritability
• Poor appetite
• Sleeplessness
• Red ears
• Vomiting
• Diarrhea
Candida Overgrowth
Behavioral Signs Headaches Inappropriate laughter Sleep disturbances Unexplained intermittent crying Belly aches Constipation Bed wetting Gas pains Fatigue Depression “Fogginess” Inattention Hyperactivity Anger, aggression Increased self-stimulatory behavior
High Pitched Screams Increased sensory defensiveness Climbing/jumping off things Sugar cravings Confusion Lethargy Inability to potty train, or loss of this skill Self-limiting Foods Plateauing in skills
Physical Signs In the mouth, in the form of thrush On the skin such as diaper rash or eczema Red ring around the anus Rash or cracking between the toes or joints
r
Gastroenterology
S Gastroesophogeal Reflux Disease (GERD)
S Eosinophilic Gastrointestinal Disorders (EIGD’s)
S Chronic Constipation
S Chronic Diarrhea
Gastroesophogeal Reflux Disease (GERD)
Medical Symptoms
S Burning in the chest or throat
S Chest pain from esophageal spasms (often mistaken as heart attack)
S Burping/hiccupping
S Vomiting
S In infants reflux is common but it’s important to note that reflux in infants does not have to be “seen” as spit up to be present. Therefore the symptoms can be hidden.
Behavioral Symptoms
S Tapping/hitting the chin
S Excessive coughing
S Applying pressure on the abdomen
S Chewing of clothes (can also be teething/sensory seeking behavior)
S Food refusal
S Excessively chewing food or food refusal (difficulty swallowing due to inflammation or eosinophilic gastroenteritis)
Eosinophilic Gastrointestinal Disorders
S Eosinophilic Esophagitis
S Eosinophilic Gastroenteritis
S Eosinophilic Colitis
Lower GI Disorders
S Chronic Constipation
S Chronic Diarrhea
S Leaky Gut
Psychiatry
S Anxiety
S Attention Deficit Disorder
S Oppositional Defiant Disorder
S Obsessive Compulsive Disorder
S Tourette’s /Tic Disorder
S Adrenergic Rage
Psychopharmacology
• Paradoxical Drug Reactions
Drug-Drug Interactions
Pain Management
• Increased sensitivity to pain in the internal organs
• Chronic pain resulting from damaged, dysfunctional or injured tissue
• Pain felt in a part of the body other than the originating site of stimulus
What is Autism?
Where do we go from here?
S Educate the Parents
S Educate the Doctors
S Educate the Therapists and Teachers
S Educate the Behaviorists
S GET PEOPLE TALKING AND COLLABORATING!
Contact Info
S Sheri A. Marino, MA, CCC-SLP
S Executive Director, Autism Think Tank, NJ
S Autism Advisor, Focus For Health Foundation