ADHD Diagnosis: Beyond Brain Diagnosis

ADHD Testing – Now Comprehensive and Biomedical
January 23, 2011
Pera and Parker: ADHD Success Clinic 1
February 6, 2011

ADHD: More Than Appearances

ADHD Complexity Evolves

For years those with ADHD have suffered with the downstream effects of adhd diagnosis, brain function, adhd treatment, adhd medicationsCritical Thinking Matters” href=””>significantly shallow perception of the real underlying contributory issues. From “bad mothers,” to “insufficient corporal punishment” the limited psychological implications of both ADHD diagnosis and treatment often prove woefully insufficient to provide consistent treatment results. That list goes on, and remains remarkably speculative.

ADHD Ignorance Abounds

The unhappy result of this medical and public confusion is a profusion of anti-biologic reverie, persistent abundant speculation, ubiquitous polymorphous “expertise” in a paradoxical sea of beliefs, dogma, and remarkably limited scientific review – all this in spite of the fact that psychopharmacologic interventions for ADHD are some of the most studied and peer-reviewed of childhood disorders.

This superficial penetration of the facts has led to considerable confusion, missed diagnosis, failed treatments, unexplained dangerous impulsivity for self and others, and an overall disillusion with both the ADHD diagnosis and the medical process used to treat ADHD. The public is justifiably unhappy and suspicious. A too frequent question: is ADHD make-believe or real brain science?

Does Suicide Matter?

Noteworthy in this regard, repeatedly reported here at CorePsych [and in my book on the subject: New ADHD Medication Rules – Brain Science and Common Sense] is the confluence of cognitive anxiety and subsequent depression, almost routinely associated with undiagnosed ADHD. ADHD leaves the suffering soul with the self-perception that the mind cannot be turned off and life is therefore arrested and meaningless.

No way out, trapped below with executive function gone, thought-squirrels running amok in the brain, years of uncontrollable thinking, – these symptoms herald a far too common interpersonal mind-hell, with no elevator shaft to the sunshine. Suicidal thoughts, suicidal plans, suicidal acts, self-injurious behaviors, and suicidal death become paradoxical opportunities for relief when no one understands – even the medical profession. This is a major problem, a profound oversight for thousands of misunderstood people.

Biomedical Testing Matters

Reported recently here at CorePsych is the fact that the new mind biology, from SPECT brain imaging to urinary neurotransmitter testing do provide ADHD biomedical markers, functional scientific answers that completely support these prefrontal cortical, executive function observations. ADHD is a process that predictably occurs under certain contextual circumstances, and is not a 24 x 7 diagnosis, as academia and institutional thinking would have you believe. Moreover, ADHD is associated with many associated biomedical conditions, a greater complexity of presentations than is commonly appreciated, and is far more treatable if we simply identify the comorbid ADHD targets correctly through modern diagnostic tools to completely understand multiple contributory factors.

Weigh In With Your Add-on ADHD Comorbid Diagnoses Below
Full Attribution For Additions! If Anonymous Let Me Know

Not 3, Not 6 – How About 161 ADHD Subsets? [Updated Here To 174 ADHD Subsets]

Let's take a moment to join together in working here on a new project, begun by a distant colleague, Tess Messer PA on her recent blog post detailing a list of 161 ADHD Subtypes – Comorbid Conditions. I am listing her excellent summary once again here, and asking you to add your biomedical subsets to this list in the comments below. Please ReTweet and forward this posting to your colleagues, your friends, your family and let's all think about this excellent start from Tess.

This is Tess's list, look it over, and add your thoughts in the comments below. At this writing a comment over at Tess's blog has already added mold. Let's get serious, take a moment to add your two cents to the evolving biomedical review, the new mind-science for ADHD treatment. ADHD medications don't work if we're not treating primary ADHD, but secondary biomedical issues. [Tess placed an asterisk beside those conditions most commonly confused with primary ADHD from her perspective.]

I added a few more of my own thoughts at the bottom…


*Academic/Learning Problems:
1. Dyslexia
2. Cognitive impairment
3. Specific learning disability
4. Giftedness
5. Memory discrimination problems
6. Mismatch of behavioral style and environmental expectations
7. Inappropriate educational setting

*Allergy Problems:
8. Allergy induced Asthma
9. Allergic bronchitis
10. Allergic rhinitis, allergic sinusitis, allergic otitis
11. Wheat, lactose, peanut and other food allergies
12. Allergies to food dyes or preservatives
13. Chronic antihistamine use

Autoimmune disorders:
14. AIDS
15. PANDAS, Pediatric autoimmune neuropsychiatric disorders
16. Disorders or Carbohydrate metabolism
17. Autoimmune neurological disorders and encephalopathy

18. B vitamin deficiency anemia
19. Iron Deficiency
20. Sickle Cell Anemia

Biomedical Problems:
21. Lead poisoning
22. Arsenic exposure during development
23. Toluene exposure during development
24. Mercury poisoning
25. PCBs exposure
26. Manganese Poisoning
27. Carbon Monoxide Poisoning
28. Prenatal Cocaine Exposure
29. Fetal Alcohol Syndrome
30. Organophosphates intoxication
31. Asthma medication reactions
32. Seizure medication reactions

Chronic Illness:
33. Viral Infections
34. Bacterial Infections
35. Parasitic Infection
36. Sequelae (symptoms resulting from) of acute infection/trauma
37. Chronic Asthma
38. Chronic Infections
39. Seizure Disorders
40. Sickle Cell Disease
41. Multiple Sclerosis

*Developmental Problems:
42. Perceptual/processing disorders
43. Pervasive Normal developmental variation
44. Developmental disorders
45. Development Disorders, not otherwise classified

Ear/Nose/Throat Problems:
46. Tonsil and adenoid hyperplasia
47. Chronic Ear Infection
48. Chronic Sinusitis
49. Chronic Upper Respiratory Infections

*Emotional Problems:
50. Separation anxiety
51. Social Anxiety
52. Generalized Anxiety
53. Attachment disorders
54. Social Skills Problems

55. Traumatic Events (house fires, major motor vehicle accidents)
56. Abuse (sexual, physical or emotional)
57. Loss by separation or death of a loved one
58. Mismatch of behavioral style and expectations

Genetic and or Chromosomal Problems:
59. Fragile X syndrome
60. Williams Syndrome
61. Mental retardation
62. Neurofibromatosis
63. XXY syndrome
64. Klinefelter Syndrome
65. XYY Disorder
66. Porphyria

*Hearing Problems:
67. Hearing deficits and Hearing loss
68. Auditory Processing problems
69. Auditory Discrimination problems

70. Parasitic Infections (pinworms, roundworms, tapeworms and hookworm)
71. Untreated or partially treated bacterial infections
72. Viral infections
73. Lingering symptoms of infections

74. Lack of exercise
75. Lack of Green space exposure
76. Poor diet
77. Major life transition (move, change of school)

Metabolic or Endocrine Problems:
78. Hypothyroidism
79. Hyperthyroidism
80. Diabetes
81. Hypoglycemia
82. Menopause
83. Hyperbilirubinimia (Gilbert’s Disease, mildly high bilirubin, inattention?)
84. PMS
85. Post Partum Depression

*Neurological Medical Problems:
86. Tourette's Syndrome
87. Autism Spectrum Disorder
88. Neurodegenerative disorders such as Alzheimer's disease
89. Temporal Lobe seizures
90. Absence Seizures
91. Post traumatic sub-clinical seizure disorder
92. Other seizure disorders
93. Neurodegenerative conditions
94. Choreiform disorder
95. Neurological infections
96. Central Nervous System or Brain trauma
97. Sensory Integration Disorders, Sensory defensiveness
98. Migraine Headaches of all varieties
99. Brain Tumors
100. Brain Cyst
101. ALS (amyotrophic lateral sclerosis)
102. Disorders of the Spine (infection, tumors, trauma)

Nutritional Problems:
103. Iron Deficiencies
104. Zinc Deficiencies
105. Protein Deficiencies
106. B vitamin Deficiency
107. Omega-3 Fatty Acid deficiency
108. Diets high if food colorings, flavorings and preservatives
109. Malnutrition

*Parenting Problems:
110. Inadequate Parenting
111. Child abuse or neglect
112. Inconsistent expectations
113. Developmentally inappropriate parenting
114. Chaotic home environment
115. Stressful home environment
116. Cultural factors
117. Parental psychopathology
118. Parental chemical dependency
119. Parental Substance abuse
120. Exposure to Domestic Violence

Prescription Medication Problems:
121. Asthma Medication
122. Allergies Medication
123. Headache Medication
124. Seizure Disorder Medication
125. Other Medication

*Psychiatric Problems [More Details In New ADHD Medication Rules]:
126. Depression
127. Anxiety (ed. note: Do these sound familiar?)
128. Post Traumatic Stress Disorder
129. Bipolar Disorder
130. Conduct Disorder
131. Oppositional Defiance Disorder
132. Childhood Mania-Juvenile Bipolar Disorder
133. Dysthymia
134. Psychosis
135. Adjustment Disorder

*Psychosocial Problems:
136. Abuse (sexual, physical or emotional)
137. Exposure to Traumatic Events (house fires, major motor vehicle accidents)
138. Domestic Violence
139. Loss by separation or death of a loved one

*Speech and Language Problems:
140. Expressive/Receptive language disorder
141. Phonological disorder
142. Dyslexia
143. Dysfluency
144. Apraxia
145. Central auditory processing disorder

*Sleep Disorders:
146. Insomnia
147. Breathing related sleep disorders and Sleep Apnea
148. Night Terrors
149. Delayed sleep Onset
150. Sleep Motor Restlessness (Restless Leg Syndrome, Sleep Leg Discomfort)
151. Sleep walking
152. Confusional arousals
153. Snoring

Substance Abuse Disorders:
154. Illegal drug use
155. Inadvertent drug intoxication (glue sniffing)
156. Prescription drug abuse
157. Ethanol abuse

*Vision Problems:
158. All Vision Impairments
159. Near sightedness
160. Convergence Insufficiency
161. Visual discrimination problems

Added on Tess's blog:
162. Mold Neurotoxins

My Additions:
163. Lyme Disease
164. Ciguatera Neurotoxins
165. Adrenal Fatigue
166. Estrogen Dominance (PCOS, etc.)
167. IBS – Constipation, Diarrhea (Transit Time under 18 hr or over 24 hr)
168. Hashimoto's Autoimmune Thyroiditis

Tess Additions:
169: Parasitic Lung Disease
170: Primary antiphospholipid antibody syndrome
171: Argininosuccinate Lyase Deficiency . The non-neonatal form – see comment below

Comment + Additions
172: Dehydration (updated 6-15-14 see comment below)
173: Candida and Yeast (updated 6-15-14)
174: Normal Pressure Hydrocephalus (updated 6-15-14)


Now It's Your Turn – Please Chime In Below!
Let's get on this list and drop your comments below. Do recirculate this list to your list, it's a great beginning to a significantly improved, more scientific ADHD dialogue. Thanks again, Tess!

> Addendum added Jan. 2016
The world has changed dramatically in the last 5 years, from the increasing awareness [reported by Dr Thomas Brown – Yale] of these comorbidity matters at the American Psychiatric Association meeting in 2015, to the remarkable ongoing evolution of Laboratory Testing For Biomedical Contributions. For more on tests we use routinely at CorePsych take a look at this set of explanatory videos and peer-reviewed references – all FDA approved: CorePsych Tests

CoreBrain Journal Podcast Updates:
CorePsych Inquires: Brief Note: This Link
Connect & Subscribe To CorePsych News: This Link
Connect & Subscribe For YouTube Updates: This Link
Complimentary & New: 23 pg Special Report: Predictable Solutions For ADHD Medications
International Book Link: New ADHD Medication Rules:



  1. Meg Griffith says:

    First time on your site. Went through this list quickly and I answered yes to 21 of things on the list. Clinically I am diagnosed with ADD, diabetes, depression, single sided deafness, postpartum depression and PTSD. My last thyroid test was over 3.5, but doc said still normal. Meds are vyvanse, insulin and an SSRI. Since i have diabetes, I also have yeast imbalances frequently. I had pin worms as a child. I had Epstein-barr virus (mono), malaria, chronic ear infections (not super chronic – no tubes – but fairly frequent), I was a strep carrier (got my brother sick over and over), had a virus that left me with single sided deafness and I am gifted. I was diagnosed with ADD in my early 30s when I was teaching. I thought maybe it was the stress of the job (large class sizes, too many papers to grade etc), but when i didn’t work I got super depressed. I went on the anti-depressants after we moved half way across the country for my husband’s job. I asked a few different doctors if their was a connection between malaria and diabetes since i was diagnosed with type 1 at 21 yrs old about 6 months after getting malaria. Since the liver is highly involved in diabetes and both the parasite and the medication are hard on the liver, I thought there may be a connection. I took cotexin, fansadar and meflequin to get rid of the malaria. As a kid, I was somewhat disorganized but nothing like I feel now. I thought it was because all my time was scheduled for me but now I’m not sure. It does seem different.

    • Meg,
      Thanks for your inquiry here – it encouraged a brief Addendum update at the close of this article from 2011. Testing options and evidence have evolved dramatically even in the last 5 years. Only 21!? 😉

      I haven’t seen specific evidence on your malaria question, but it makes common sense to me as you likely do suffer with a comorbid immunity disorder that would significantly amplify with a concurrent invasion of parasites. You should take the time to look at my outline of these issues in the sequence of videos available as a PDF download here:

      Your special attention should investigate the video playlist as a starter.
      Then take a look at this pdf download for testing available:

      You do need a complete workup for immunity and the downstream effect of chronic immunity issues. You do suffer with hypothyroid according to the American Association of Clinical Endocrinologists:

      We consult internationally, so consider a long distance workup by dropping us a note here:

      Your Executive Function Challenges can absolutely amplify within the context of your biological insults – and the changing variables in your lifetime realities, from relationships to geography. The good news: answers are out there, but they do need more digging.

  2. Kay says:

    Hi Dr. Ive been taking .5 mg of vyvanse for several months and it does work. I have become more dehydrated while on it. I have a complicated illness. Ive recently done the OATS and ION panel Ive had diahrea for many years off and on and been trested for parasites My serum labs show normal sodium potassium ratio. My Dr who uses vyvanse with many patients and is an alternative physician has never seen this kind of reaction with vyvanse. Besides being checked for a new parasite what other tests could you suggest? iv fluids for several days has helped tremendously
    Thank you.

  3. Mini Cash-Cameron says:

    132. Domestic Violance to include physical, emotional and financial.

  4. Mike Collins says:

    A while back I asked my doctor if there was any other conditions that could have “ADHD like” symptoms that maybe I should get tested for.

    He said “no.”

    I should send him this list!

    • Mike,
      His is a natural reaction based upon the diagnostic standard of care based almost entirely on appearances, not remotely considering cellular physiology. He’s well within the current outdated standard of care and would find himself well defended by many psychiatric colleagues. If your doc is interested he might appreciate the epigenetic videos and methylation/comorbidity posts referenced here: – This page would be less overwhelming and more to the point of neurophysiology considerations.

  5. DEHYDRATION, unrecognizable chronic low level dehydration. My apologies if on the list.

    Dehydration is a major factor in AutoImmune and Neurological Disorders and is underlying cause to high/ chronic levels of Oxidative Stress which is well known to play a role in most if not all Neurological Disorders. Dehydration is known to disrupt both Executive & Cognitive function.

    Dehydration also causes natural increases of Histamine levels to force internal water conservation via inflammation. This often sets the stage for allergic food interaction as our natural immune system is weakened, the lymph system bogs down and vital organs are forced to recylce water from our urine & poop. This doubles the load on the kidneys & starts the constipation,gastro & inflammation issues. The list goes on & on yet most intervention is done via dietary control & unfortunately medication.

    Children are often dependent on others to provide water only furthering the problem and setting the stage for dehydration related physical & or Neurological issues to take hold and over time manifest into others as the child grows.

    Dehydration is vastly overlooked and must be the primary consideration prior to any other remedy for most illness. Here’s a drop in the bucket of info available: ” Does having a drink help you think? 6-7-Year-old children show improvements in cognitive performance from baseline to test after having a drink of water.”

    While drinking anything helps; drinking anything beside water requires digestive processes to take place further diminishing vital mineral and water stores. How much water is my child getting?

    • Pat,
      Many thanks for your addition. Further, I appreciate your reference link. As a result of your input I’ve restructured and republished this entire post. Have a great day, many thanks!

    • Mike Collins says:

      This is a big one, at least for me. Being on stimulant medication, this becomes even more important since they tend to dehydrate you.
      I find that the stimulants can cause real bad side effects if one is dehydrated – even a little bit!

  6. Rhiannon says:

    I was diagnosed ADHD last year at the age of 44! I also have OCD, which I’ve always known about, its mostly of the ‘Pure’ O type, I never knew about their interaction tho! I’ve had the gamut of anxiety/depression etc. I very recently stumbled across Low Latent Inhibition-whichs seems to almost ‘umbrella’ my family of co-morbidites, yet there is little information out there about it-I just wondered how you think about it?

    • Rhiannon,
      Low Level Inhibition is just another name, IMHO, for cognitive disarray associated with PFC dysregulation, often associated w Cognitive Anxiety. My quick reaction to that label is that it goes more in the descriptive direction, and misses the functional direction I’m working to encourage. Cognitive Anxiety is hooked up with PFC activity, and quite reasonable to respond to Executive Function Treatments w Stimulant medications.

  7. Paul Gilchrist says:

    What are your thoughts on the TOVA and IVA test for ADHD.
    thanks Paul

    • Paul,
      Very helpful, have used them for years as many need to see exactly how they function on paper. ADHD is often difficult to chase down, and data like these often turns the tide of denial.

  8. 170+ comorbid conditions, and nobody mentioned obesity?

    From my 2e perspective, it seems obvious that the double whammy of a gifted ADHD brain over time releases so many stress signals that the immune system gets confused, and the nervous system, especially the vagus nerve(s) start acting up. Logically, the longer a person has lived with undiagnosed and/or untreated ADHD, the more comorbidities will be present.

    • Elrin,
      Yes, stress and cognitive array so appear to contribute – as down the ADHD lifetime we regularly see adrenal challenges and diminished ability to compensate. I’m pressing on the body up simply because the brain down almost always takes the body process off the table as contributory. The mutuality of challenges does create and contribute both ways. Well said.

      The important conclusion: never forget the biomedical issues, as they are, from my watching recovery in the office for many years, the major contribution. Once corrected the mind settles and the comorbidities associated with stress resolve.

  9. Cassie says:

    Not on here anywhere that I can see:

    Baker’s cyst – overuse injury… in a 6 year old (now 14). actually he was diagnosed with the cyst before the ADHD/PDD-NOS 🙂

    Might add more when I can think of them.

    • Cassie,
      You are a sport! Never thot of that one. That brings parts of the body up I never considered. From poop to Baker’s cyst, to estrogen dominance – quite a spectrum!;-)

  10. […] ADHD Testing: Beyond Brain Diagnosis « CorePsych […]

  11. […] ADHD Diagnosis Requires More Than Casual Thinking […]

  12. Thanks Tina, good contribution, need to get them added!

  13. Maggie,
    Don’t think your guy is bipolar, sounds like he is a mercurial slow burner. The meds are unpredictable because he has a moving therapeutic window, then a narrow therapeutic window, both of which are covered extensively here if you SEARCH them.

    As you know from *Rules* these metabolic vagaries are quite easily measured, and my favorite next step for your H would be Transit Time, and IgG testing asap.

  14. Anonymous says:

    I recently purchased your ADHD Med Rules e-book and find it very informative!  I have also been all over your website, recently diagnosed at 43 with ADHD. It’s a relief to find out.

    My husband has also recently been prescribed medication for ADHD.  Two psychiatrists have said “no” to bipolar but the more we read & learn about it the more it fits his mood patterns and other issues, including information in your book.   If it is bipolar, his symptoms correlate more to a rapid cycling version, with hypomanic symptoms, not full mania and more of a 24- 48-hour cycle.   

    I do apologize if you’ve addressed this question in the book, but I was wondering:  I understand that Vyvanse is supposed to ‘clear’ the system, but, for an individual with possibly undiagnosed bipolar — could it have lingering effects?  

    What is usually a 48-hour cycle of regular day/’mixed’ day, closes off with irritability/touchiness/poor judgement/complete exhaustion and a solid sleep, and the cycle starts again with a ‘regular’ day.  He started Vyvanse on a ‘regular’ day, and the 3 days he took it resulted in 3 ‘mixed’ days in a row…and the next few days with lingering irritability bordering on ‘mixed day’ symptoms.  He has a follow-up appointment scheduled but since he has been trying to get issues addressed for years with no improvement & worsening symptoms, I thought I’d ask.

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  16. Well said Don – this OCD, cognitive abundance presentation has been on my radar for many years, and I’m so pleased that others join me in thinking about surface symptoms of OCD from a functional point of view – involving PFC function – vs phenotypic analysis of appearances.

    Thanks for this excellent reference and big thanks for stepping up to the plate and weighing in on this much overlooked subset of ADHD presentations… OCD is clearly on my list!

    You might enjoy this brief video if you haven’t seen it yet on this interesting Cognitive Anxiety/OCD appearing presentation:


  17. Don Haupt, MD says:

    I think obsessive compulsive disorder belongs on this list as a frequently comorbid condition to ADHD, I see only adults, and many with ADHD, and also a number with OCD. Almost every adult OCD person I’ve treated has a clear childhood history of ADHD. I heard a lecture by Paul Wender, MD, the “father” of Adult ADHD, who said that in his experience, 70% of those with Adult ADHD had at least some OCD symptoms as well. There is some success reported in open label trials of adding dextroamphetamine for OCD patients who are resistant to SSRIs. 
    And a reference:
    An Epidemiological Study of Obsessive-Compulsive Disorder and Related Disorders in Israeli Adolescents

    Journal of the American Academy of Child and Adolescent Psychiatry 1 November 1992 (volume 31 issue 6 Pages 1057-1061 DOI: 10.1097/00004583-199211000-00010)
    For a well known example, read Howie Mandel’s recently published autobiographyDon Haupt, MDCo-author, The Complete Idiot’s Guide to Adult ADHD (Alpha/Penguin, 2010)

    • Don,
      Very sorry to be so late in replying here – and an emphatic yes is in order! Appreciate also the links and paper. Not trying to one up, but am kicking myself for not including it, as OCD subsets have been on my radar for years, back into 1996 when I first came across the fact that Adderall corrected the cognitive anxiety. This video and notes address your observation in some more detail –

      Thanks so much! Actually just saw that I did respond some time ago, ah well…

  18. Lisa says:

    I’m curious. I have schizophrenia and ADHD. The negative symptoms of schizophrenia overlap those of ADHD, but there are subtle differences, I feel, in the area of motivation. When I’m having problems due to schizophrenia, my motivational issue is very “deep” for lack of a better word. I have problems getting out of bed, though I’m not depressed. I don’t start my day until 2 or 3pm. I don’t even eat or shower. I just don’t do anything …not for a particular reason…I just don’t do anything. The motivational problems I have with ADHD are different. I don’t have problems getting out of bed. I do have problems initiating tasks, in particular tasks I percieve as boring, too long or that I just plain don’t like. I know that in general I have little motivation and drive and I have a hard time doing tasks for which there are no really exciting end goals. The medication I take does help with that. I still don’t have as much motivation and drive as most people, but at least I can get stuff done now.

    • Lisa,
      I got the ‘deep’ part from where ever you are! What you describe is a significant negative energy and an exhaustion. Without building false hope, only trying to offer an alternative, I can tell you I have many in my practice that had clear schizophrenic symptoms secondary to gluten or casein and the cytokine challenges downstream from flaming food allergies. My suggestion: Get an adrenal test for cortisol and DHEA, saliva preferred, and see what is going on with you adrenal cortex. NeuroScience NeuroAdrenal is paid by most insurances and would definitely be worth a shot.

  19. Tess Messer says:

    1Argininosuccinate Lyase Deficiency . The non-neonatal form

    Disease characteristics. Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, is characterized by a severe neonatal onset form and a late onset form. The severe neonatal onset form, which is indistinguishable from that of other urea cycle disorders, is characterized by hyperammonemia within the first few days after birth accompanied by vomiting, lethargy, hypothermia, and poor feeding. In the absence of treatment, lethargy, seizures, and coma worsen, resulting in death. In contrast, the late onset form ranges from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes include: (1) neurocognitive deficiencies (attention deficit hyperactivity disorder [ADHD], developmental disability, seizures, and learning disability); (2) liver disease (hepatitis, cirrhosis); (3) trichorrhexis nodosa (coarse brittle hair that breaks easily); and (4) systemic hypertension. Diagnosis/testing. Elevated plasma ammonia concentration (>150 µmol/L, sometimes up to ≥2000-3000 µmol/L), elevated plasma citrulline concentration (usually 200-300 µmol/L), and elevated argininosuccinic acid in the plasma or urine establish the diagnosis of ASL deficiency. Molecular genetic testing of ASL (the only gene in which mutations are known to be causative) and assay of ASL enzyme activity may be helpful when the biochemical findings are equivocal. Note: All 50 states in the US include ASL deficiency in their newborn screening programs. Management. Treatment of manifestations: Treatment of acute metabolic decompensation with hyperammonemia involves rapid control of hyperammonemia by discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen scavenging therapy. If ammonia levels do not normalize, hemodialysis is the next step. Prevention of primary manifestations: Dietary restriction of protein and dietary supplementation with arginine are the mainstays in long-term management; for those not responsive to these measures, oral nitrogen scavenging therapy can be considered. Orthotopic liver transplantation (OLT) is considered only in patients with recurrent hyperammonemia or metabolic decompensations resistant to conventional medical therapy. Surveillance: Monitoring the concentration of plasma amino acids to identify deficiency of essential amino acids and impending hyperammonemia at intervals depending on the clinical scenario. Agents/circumstances to avoid: excess protein intake; less than recommended intake of protein; prolonged fasting or starvation; obvious exposure to communicable diseases; valproic acid; intravenous steroids; hepatotoxic drugs (in those with hepatic involvement). Testing of relatives at risk: Testing of at-risk sibs (either by molecular genetic testing if the family-specific mutations are known or by biochemical testing) shortly after birth can reduce morbidity by early diagnosis and treatment in those who are affected. Genetic counseling. ASL deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family have been identified.
    Copyright © 1993-2011, University of Washington, Seattle. All rights reserved.

  20. Tess Messer says:

    We are up to 170

    169. Parasitic Lung Diseases (See case study #1 below) and

    170. Primary antiphospholipid antibody syndrome (see second case report)

    [Toxocariasis in a 5-year-old boy–manifesting as bronchial asthma and behavioral disorder].
    [Article in German]

    Varga EM, Auer H, Zach M.

    Klinische Abteilung für Pulmonologie, Univ.-Klinik für Kinder- und Jugendheilkunde Graz.
    We report on a five year old boy who was admitted to hospital because of obstructive airway disease; initially, findings were interpreted to indicate bronchial asthma. In addition, the patient presented with a behavioural abnormality of aggressiveness and hyperactivity. Laboratory examinations showed an elevated IgE level and eosinophilia, chest x-ray revealed infiltrations in both lungs. After excluding a spectrum of chronic lung disorders by relevant investigations, serological testing for parasitosis revealed massively elevated toxocara IgG antibodies. The diagnosis of a “covert form” of toxocarosis was established and an antihelminthic therapy with albendazole was initiated. Chronic respiratory symptoms in childhood can also indicate the presence of a parasitic infestation.


    Mov Disord. 2007 Sep 15;22(12):1813-5.
    Clinical and positron emission tomography findings of chorea associated with primary antiphospholipid antibody syndrome.
    Wu SW, Graham B, Gelfand MJ, Gruppo RE, Dinopolous A, Gilbert DL.

    Division of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio 45229, USA.
    A fourteen-year-old right-handed male with a history of attention deficit hyperactivity disorder (ADHD) presented with alternating hemichorea. Laboratory findings included elevated anticardiolipin IgG and anti-beta(2)-glycoprotein I IgG, which were consistent with primary antiphospholipid antibody syndrome. Positron emission tomography (PET) imaging revealed altered striatal metabolism in his left putamen while he was exhibiting right-sided hemichorea. His symptoms resolved on prednisone; however, his antiphospholipid antibody profile remained markedly abnormal despite being symptom-free for 26 months.

  21. Neal says:

    You are correct about vision problems as a marker for ADD and other mental, emotional and cognitive disorders, Dr. Parker. This is way over the heads of most psychiatrists.

    I learned about the work of Dr. William H. Bates in 1982, and although I have not been able to give up my glasses to correct for myopia entirely, because it would not be safe to drive without them, I reduced my prescription considerably. I have always felt that if I could just go six months without having to wear them at all, I could be free permanently. Simply knowing the true cause of myopia, and its relationship to stress has improved my quality of life greatly. You don’t need to pay for an expensive better vision course. The Bates material has been open sourced here.

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