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Showing posts from May, 2018

An Autism Case History - EpiphanyASD in a Pill

It is not quite that easy!


Initials: LT Age: 14 years old

Year of Birth:              2003

Sex:Male

Date:                           24 May 2018
Diagnosis LT was diagnosed with autism in January 2007, at a multi-disciplinary assessment in London, at the age of 3 years 6 months.At that time, LT was non-verbal but had some emerging vocalization. No tics, no seizures, no unusual physical features, no self-injury, no sleep disorder, no feeding disorder. Toilet trained. Very limited attention span. No imaginative play. Liked to jump.

IQ not tested. No CARS (Childhood Autism Rating Scale) assessment. TEACCH and PECS were recommended as therapy. Further medical testing or referrals � none recommended (standard practice in the UK)

LT has an older brother who is intelligent, multilingual and highly social.
Comorbidities GI disease:None Epilepsy:None Asthma:Yes, mild asthma from early childhood Allergy:Pollen Sleep disorder:None
General Health Very healthy and almost never ill. When visiting his GP at the age of 14…

Statins, SLOS and Hypocholesteraemia � Going Nowhere Fast

Today�s post is about cholesterol, statins and autism. There is a well-documented condition associated with autism called SLOS (Smith-Lemli-Opitz Syndrome). It is caused by mutations in the DHCR7 gene encoding the enzyme that catalyzes the final step in cholesterol biosynthesis.
Toe syndactyly (webbed toes), one symptom of SLOS


Reduced activity of the enzyme 7DHCR typically leads to low levels of cholesterol, but markedly increased levels of precursor 7DHC (and its isomer, 8DHC) in blood and tissues. Typical SLOS manifestations include intellectual disability, growth retardation, minor craniofacial anomalies, microcephaly and 2-3 toe syndactyly (webbed toes). SLOS is rare, but some cases do get missed because you can have a DHCR7 mutation and have normal levels of cholesterol and have normal cognitive function.
Cholesterol and the blood brain barrier (BBB) You do have a lot of cholesterol in your brain, but it does not cross the blood brain barrier (BBB), it was made in the brain.  Eating …