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Interesting case study how it's easy to misdiagnose ADHD.

adhd

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#1 jack black

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Posted 29 April 2017 - 01:23 PM


I always thought ADHD and depression are wastebasket categories and lots of diverse problems are commonly diagnosed as one or other.
While I don't agree 100% with the below story, it's a good read:

"Wendy (not her real name) is a 40 year old corporate attorney who first presented with her husband who was bitterly complaining that she had ADHD and he “couldn’t take living with her anymore.” She also complained of anxiety, stress at work, mild symptoms of depression; and had been prescribed Zoloft 100 mg a day by her primary care doctor. There was a history of tightness in her chest, anxiety attacks, and rejection sensitivity. She reported feeling somewhat better on the Zoloft, but would have fluctuating problems with attention, difficulty organizing her work and home, being easily distracted, jumping from task to task without completion, interrupting others, acting before thinking, irritability, impatience, messiness, and mental fatigue. There was a past history of a concussion at age 4, and a second concussion at age 18. There was also a past history of binge drinking with alcohol for 3 years on weekends, smoking pot for a few years, and two trials of LSD. Wendy had earned a law degree and worked as a corporate counsel in a large corporation, yet she was really struggling at work. She reported that a previous trial of Intuniv to treat her symptoms of ADHD was ineffective, stating “It made me feel like I had a weight on my head.” Preliminary diagnosis was ADHD predominantly inattentive type, anxiety disorder, and dysthymic disorder.

The next visit also included her husband, and he noted that she, “gets lost in time,” was not emotionally available to him or their children, hoarded “everything,” took 30 minute showers, brushed her teeth for 10 minutes twice a day (and for 45 minutes at times), and that she was a “collector.” He also worried about her being a pathological hoarder or having OCD. We kept her on the Zoloft 100 mg a day and also put her on Concerta 36 mg a day to treat the ADHD symptoms. On Concerta 36 mg she had improved attention, less distractibility, better organization abilities, less irritability, kept a more orderly home, and reported reduced mental fatigue.

She then was increased to 54 mg a day of Concerta as she and her husband felt that 36 mg was “not as helpful as it might be.” She reported over time that she was doing well on these medications, Zoloft was gradually increased up to 150 mg a day and Concerta to 18 mg three times a day. She continued to suffer from feelings of low self-esteem, and her husband noted that she continued to be quite disorganized, not “present”, easily frustrated, and readily infuriated. He stated he wanted to file for divorce.

We increased Her Zoloft to 200 mg a day to try to help reduce her anxiety and improve her mood. She described that she was thinking more clearly in a more linear fashion on the Concerta 18 mg three times a day, but her husband was doubtful of the improvements that she was describing. She continued for two years on the same regimen, until her husband reported that “Her medications are not helping anymore.” He described that “on the weekends she is dead,” meaning that she was exhausted and would not adequately participate in child care or house cleaning chores.

Her husband wanted a significant change in her medication, and she was somewhat reluctant, but we substituted Vyvanse for the Concerta. The Vyvanse was prescribed and gradually increased over time. She reported that she liked Vyvanse 40 mg much better than Concerta 54 mg. She described that she was calmer and more personable; also more focused and disciplined.

Four months later she again presented with her husband having been fired from her job. She reported that her earlier descriptions to me that she was doing well on the medications were untruthful, and that for many, many months, if not the last several years, she was not meeting important deadlines at work. She had a negative performance review 6 months before, and was suffering from significant amounts of anxiety. Her husband noted that she was laid off from three other jobs over the past 16 years due to her lack of focus, irritability, and procrastination.

A review of the ADHD RS IV form revealed that even on Vyvanse, she had a score of 12/27 on the hyperactive scale and 16/27 on the inattentive scale, indicators that she still suffered from significant symptoms of ADHD despite the Vyvanse. We decided to place her on Cymbalta to try and help boost her norepinephrine levels to see if it would help her procrastination and lack of taking responsibility. Cymbalta was gradually increased over time to 120 mg, but her husband reported that she was not working as well at finding a new job even on Cymbalta 120 mg and Vyvanse 30 mg twice a day – she continued to suffer from significant ADHD symptoms.

We then noticed that she was having mood swings, pressured speech, excessive talking, an ebullient and elated mood, flight of ideas, rage attacks, excessive excitability, racing thoughts, feelings that she was very special, grandiose thinking, and also felt down at times. In reviewing this with her and her husband, he wondered if in fact she had been manic years before when she wouldn’t sleep for days at a time, spent money wildly, and also had grandiose ideas.

As a result of these more recent symptoms and new historical information, we initiated Lamictal 25 mg a day increasing it by 25 mg per day per week over time. The Cymbalta was reduced to 60 mg for one week, and then discontinued, and she was taken off the Vyvanse. She noted that the mood swings, racing thoughts, depressed feelings, and over-exuberance began to get better on Lamictal 50 mg a day. We then increased it over time up to 100 mg, and her husband reported about a 60 to 80% improvement at that dose.

We then initiated increases in Lamictal over the next month up to 100 mg twice a day, and added Wellbutrin and increased it up to 300 mg a day. The Lamictal was increased to 100 mg twice a day, and Wellbutrin up to 450 mg a day. Given that the patient was getting more irritable on the Wellbutrin, and she reduced Lamictal because she did not think she needed it, we decided to order the Genomind Genecept test.

The test was revealing for genetic variations in the calcium channel gene, the sodium channel gene, and the MTHFR gene (which codes for an enzyme that converts folic acid to l-methylfolate, an essential cofactor in the production of serotonin, norepinephrine and dopamine in brain cells). For this reason, we reinstated higher doses of Lamictal (a sodium channel blocker) up to 75 mg twice a day, started magnesium (a calcium channel blocker) 200 mg twice a day to be increased to four times a day, and Deplin (l-methylfolate) 15 mg a day.

One month later Wendy said “It’s working.” She added “This is a good thing.” She was much calmer. I recommended that she order Trancor to be able to get improved calcium channel blockade. As it contained a combination of magnesium, N-acetylcysteine, and Taurine all in one pill, it could further stabilize her mood given her calcium channel abnormalities. Her husband was also seeing positive changes and noted that she was able to be calmer than ever, even when the two of them had a fight. The plan was to add Trancor three times a day, stay on Lamictal 100 mg twice a day, and elemental folate 7.5 mg twice a day, as this regimen seemed to be working better than any prior regimens.

Two months later she was hired by another corporation as an in-house attorney, continues to work there to this day, and has received solid performance reviews."

From https://drbrucekehr....osed-with-adhd/
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#2 ta5

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Posted 29 April 2017 - 10:40 PM

I'd like to get this Genomind Genecept test. I wonder how much it costs. This news article says, "Paid out of pocket, it costs $750." I already have my 23andme, I wonder if they could just take my data and analyze it for cheaper. I bet not.

 

Orangish posted this thread saying they got the test.

 

Here are the Genes Analyzed in the Genecept Assay:

 

Serotonin Transporter (SLC6A4)

  • Protein responsible for reuptake of serotonin from the synapse
  • Inhibition of this protein by SSRIs, which may lead to increased risk for non-response/side effects
  • Use caution with SSRIs; SNRIs or non-SSRI antidepressants may be used if clinically indicated
 
Calcium Channel (CACNA1C)
  • A subunit of the calcium channel which mediates excitatory signaling
  • Associated with conditions characterized by mood instability/lability
  • Atypical antipsychotics, mood stabilizers, and/or omega-3 fatty acids, which may help to reduce excitatory signaling, may be used if clinically indicated
 
Sodium Channel (ANK3)
  • Protein that plays a role in sodium channel function and regulation of excitatory signaling
  • Associated with conditions characterized by mood instability/lability
  • Mood stabilizers and/or omega-3 fatty acids, which may help to reduce excitatory signaling, may be used if clinically indicated
 
Serotonin Receptor 2C (5HT2C)
  • Receptor involved in regulation of satiety
  • Blocked by atypical antipsychotics, resulting in metabolic side effects
  • Use caution with atypical antipsychotics; metformin, lorcaserin or other anti-obesity interventions may be used if clinically indicated
 
Melanocortin 4 Receptor (MC4R)
  • Receptor that plays a role in the control of food intake
  • Increased risk for weight gain and higher BMI, which is exacerbated by atypical antipsychotics
  • Use caution with atypical antipsychotics; metformin, lorcaserin or other anti-obesity interventions may be used if clinically indicated
 
Dopamine 2 Receptor (DRD2)
  • Receptor affected by dopamine in the brain
  • Blocked by antipsychotic medications and is associated with risk for non-response/side effects. Associated with increased risk of opioid abuse
  • Use caution with antipsychotics and opioids
 
Catechol-O-Methyltransferase (COMT)
  • Enzyme primarily responsible for the degradation of dopamine in the frontal lobes of the brain
  • Altered dopamine states can have emotional/behavioral effects and impact response to dopaminergic agents
  • Dopaminergic stimulants, COMT inhibitors, and/or TMS may be used if clinically indicated for Val/Val patients
    Use caution with dopaminergic stimulants in Met/Met patients. Atypical antipsychotics may be used for psychotic related disorders if clinically indicated
 
Alpha-2A Adrenergic Receptor (ADRA2A)
  • Receptor involved in neurotransmitter release
  • Associated with improved response to stimulant agents
  • Stimulant agents may be used if clinically indicated
 
Methylenetetrahydrofolate Reductase (MTHFR) - A1298C, C677T
  • Predominant enzyme that converts folic acid/folate to its active form (methylfolate) needed for synthesis of serotonin, dopamine, and norepinephrine
  • Associated with varied activity and conversion of folic acid/folate to methylfolate
  • Supplementation with L-methylfolate may be used if clinically indicated
 
Brain-derived Neurotrophic Factor (BDNF)
  • Important for proper neuronal development and neural plasticity
  • Impaired BDNF secretion, which may be associated with altered SSRI response in Caucasians
  • Increased physical activity/exercise may be beneficial for Met carriers if clinically indicated
 
μ-Opioid Receptor (OPRM1)
  • Opioid receptor affected by natural and synthetic compounds
  • Activated by opioids and associated with varied analgesic response or dosages.
  • Use caution with opioids; non-opioid analgesics may be used if clinically indicated; Naltrexone for alcohol use disorders may be used if clinically indicated
 
Glutamate Receptor (GRIK1)
  • An excitatory neurotransmitter receptor in the brain
  • Associated with response to topiramate for alcohol abuse
  • Topiramate may be used for treatment of alcohol abuse if clinically indicated
 
CYP450  (CYP1A2, CYP2B6, CYP2C9, CYP2C19, CYP2D6, CYP3A4/5)
  • Enzymes that metabolize medications in the liver
  • Large number of psychiatric medications are metabolized by CYP450s
  • Dose adjustment (an increase or decrease) may be required
 

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#3 jack black

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Posted 30 April 2017 - 06:01 PM

Ta5, thanks for the info.

i crosschecked this against my results and some of that is covered by 23&me:

SLC6A4

CACNA1C

ANK3

MC4R

DRD2

COMT

ADRA2A

MTHFR

BDNF

OPRM1

GRIK1

CYP450

 

and i'm negative for all those, except for COMT heterozygosity Val158Met (rs4680) and a few CYP450 mutations (CYP2C19, CYP1A2, CYP2C19, CYP3A5, CYP2D6*10, CYP2D6, CYP3A5).

 

but some are not covered:

5HT2C

 

The interpretation is very interesting. this is the very first time i see a recommendation of atypical antipsychotics for COMT mutations.

 

 







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