- Male, 5 yoa
- Autism (Autism Spectrum Disorder)
Doctor's impression: ND presents with a unique and eclectic mixture of symptoms. ND shows symptoms of mitochondrial dysfunction, excessive oxidation, impaired methylation (confirmed via genetic testing) and possible glutamate dysregulation (as per genetic testing). Initially ND was non-verbal, unresponsive to most stimuli and experiencing unrelenting seizures (partially intractable). Numerous medications were attempted with poor results, a ketogenic diet (no carbohydrates) was partially successful but unsustainable. After correcting impaired methylation and enhancing neuroprotection ND began to improve in overall amount and magnitude of seizures. It was also at this time (within 1-2 weeks) that his awareness and language made significant leaps. Mitochondrial support was added 1 month after with further improvements in both ASD symptoms and Epilepsy (significant seizure reduction with mitochondrial/energetics treatment). Currently he is on a varied diet (off ketogenic), no pharmaceuticals and a daily supplement regimen specifically tailored to his needs and unique issues.
In a few sentences could you describe in your words ND's health previous to starting with Dr. Gulliver. List Diagnoses where applicable.
- Epilepsy diagnosed April 11, 2013
- Autism diagnosed June, 2013
- ND at the age of one seemed to be developing above that of his peers (walking, talking, and using two hands). At the age of 17 months ND started to have focal seizures which occurred maybe once or twice a week. It is at this time ND had regression in language and development.
- Just prior to consulting Dr. Gulliver ND was having 30+ clusters of seizures a day, lasting from five minutes to 22 minutes each. After each cluster ND would sleep anywhere from one hour to two and a half hours. He would wake, eat, have a seizure and sleep. That was his routine, sleeping 16-18 out of 24 hours a day. When he was awake he was not interested or aware of anything around him. He was unable to walk with any confidence because he was so off balance.
- Overall, I would say that ND's health prior to consulting Dr. Gulliver was very weak.
- Abnormal EEG, significant seizure activity.
List of trialed medications, diets or otherwise trialed before seeing Dr. Gulliver
Clobazam 2.5 mg, April 14, 2013 – June 22, 2013
Valproic Acid 50mg/ml, May 24, 2013 – August 19, 2013
Phenobarbital 60mg, June 7, 2013 – June 8, 2013
Ethosuximide 50mg/ml August 8, 2013 – May 1, 2014
Depakote Sprinkles 125mg per cap, August 20, 2013 – December 3, 2014
Kepprea 100mg/ml, November 2, 2013 – December 26, 2013
Topiramate Sprinkles 15mg per cap, January 15, 2014 – March 8, 2015
Clonazepam 0.25mg, June 4, 2014 – July 2, 2014
Melatonin 3mg, June 11, 2014 – June 13, 2014
Ketogenic Diet September 9, 2013 – March 21, 2014
Overall impression of his developmental stage, language, awareness, interaction with the environment.(1-10, for scale of development, 10 being no interaction or progression) Prior to Dr. Gulliver.
- Developmental stage – Chronological age of 3 with developmental age of 1.5 years (2 for scale of development)
- Language – Non-verbal. Was verbal but had regression at age 22 months. (2 for scale of development)
- Awareness – None aware of surroundings. He was in and out of seizures so frequently that he slept almost 16 out of 24 hours a day. (2 for scale of development)
- Interaction with environment – Zero to little interaction with his environment as he was unable to walk with balance and when not in a seizure or sleeping was in a “zombie” like state. (2 for scale of development).
Amount of seizures, magnitude etc before seeing Dr. Gulliver, abnormal EEG's are relevant. (1-10 rating as well, 10 being very severe).
- Nicholas’ seizures, type and frequency of, changed almost with every medication change. At the beginning the seizures were focal in nature and very faint, unnoticeable to most. Than they changed to myoclonic jerk seizures. In this stage, and at that time, he was at his worst having 30+ clusters a day with 200+ head jerks. It was during this time that the magnitude of the seizures were at their worst. He would drop in mid stride and the force behind the head jerk was very very powerful. Rating of 10 (very severe) for seizure activity prior to seeing Dr. Gulliver. If he was not having a seizure he was sleeping. Rating of 8 for magnitude of seizures.
After treatment with Dr. Gulliver.
Overall health (1-10) scale. 10 being exceptional health.
- Overall health rating of 8. ND has developed many skills and is expressing himself verbal more and more every day. First noticeable one month after consulting Dr. Gulliver. (ND said “Mom”).
- Improvements in awareness, stereotypical behaviour, language generation and understanding/reception. Improvements in sensory needs and imagination (via play) have been evident.
Development and progression. (1-10), 10 indicating rapid progression (this is relative to before).
- Development and progression 7. ND went from not being able to walk up or down the stairs without assistance to jumping from the second step down within three months. Attributed to the development in his balance and awareness of environment.
- Rating of 9 in development with the addition of the last Compound. Hugh development in verbal attempts and interest in environment within two weeks after starting supplement.
3. Seizure activity, magnitude, overall impression (1-10)(10 being good)
- Seizure activity 9. From 30+ clusters to 4-5 seizures daily
EEG showed significant reductions in activity, and focal epileptiform discharges.ND has continued to do well on his current regimen, however, he still faces significant challenges, his joyful nature and his parents tireless efforts will ensure continued progression.
NAC for OCD
A systematic review has recently been conducted on NAC and it's utility in Obsessive Compulsive disorder.
Clin Psychopharmacol Neurosci. 2015 Apr 30;13(1):12-24. doi: 10.9758/cpn.2015.13.1.12.
N-acetyl cysteine in the treatment of obsessive compulsive and related disorders: a systematic review.Oliver G1,
Obsessive compulsive and related disorders are a collection of debilitating psychiatric disorders in which the role of glutamate dysfunction in the underpinning neurobiology is becoming well established. N-acetyl cysteine (NAC) is a glutamate modulator with promising therapeutic effect. This paper presents a systematic review of clinical trials and case reports exploring the use of NAC for these disorders. A further objective was to detail the methodology of current clinical trials being conducted in the area.
METHODS:PubMed, Web of Science and Cochrane Library Database were searched for human clinical trials or case reports investigating NAC in the treatment of obsessive compulsive disorder (OCD) or obsessive compulsive related disorders. Researchers with known involvement in NACstudies were contacted for any unpublished data.
RESULTS:Four clinical trials and five case reports/series were identified. Study durations were commonly 12-weeks, using 2,400-3,000 mg/day ofNAC. Overall, NAC demonstrates activity in reducing the severity of symptoms, with a good tolerability profile and minimal adverse effects. Currently there are three ongoing randomized controlled trials using NAC for OCD (two adults and one pediatric), and one for excoriation.
CONCLUSIONS:Encouraging results have been demonstrated from the few pilot studies that have been conducted. These results are detailed, in addition to a discussion of future potential research.
NAC also has research indicating that it may be useful for other OCD spectrum disorders, such as grooming disorders, addiction/substance abuse, skin picking and nail biting!