Autism-spectrum in Primary Care
What ages does the AAP recommend screening for Autism and with what tool?
18 months & 24 months with the MCHAT (Modified Checklist for Autism in Toddlers)
What time period in pregnancy does n/v start and end?
Starts at 1 month (4-6 weeks)
Ends by 5 months (20 weeks)
*Morning sickness is a misnomer, n/v occurs throughout the day.
Definition: Fatty infiltration of the liver with ____?
Fatty infiltration of the liver with 1 of 5 cardiometabolic risk factors: hyperglycemia, HTN, hypertriglyceridemia, low HDL, overweight/obesity), and no other secondary cause including no or low alcohol (4 drinks men, 3 drinks in women).
- Name changed from using the words fatty and non-alcohol to avoid stigmatizing language.
- It is MC in men, Latino, non-Hispanic White
How long must symptoms be present to meet the diagnosis?
multi-systemic neurological disorder with:
1. profound fatigue + reduction in function x6 mo
2. post-exertional fatigue
3. unrefreshed sleep
4. cognitive changes/orthostatic.
*associated with poorer quality of life compared to: CHF, Renal failure, Multiple Sclerosis, Stroke, Cancer
Acadia National Parks
Maine
As early as what age are first symptoms of Autism present, and what may the earliest symptoms be?
As early as 6 months. First symptoms at 9 months may include not responding to name and not showing facial expressions such as happy, sad, angry, surprised.
Hyperemesis Gravidum (incidence is 0.3-3% of pregnancies): what is the Dx?
- presence of nausea, vomiting or both
- inability to eat or drink impairing ADLs
- onset before 16wks
*prior DX included a definition of at least 5% of prepregnancy weight loss. This is no longer used.
- Risk factors for this include: young age, nulliparity, female fetus, hx of presence in previous pregnancy
What is the difference between Metabolic-associated Steatotic Liver Disease (MASLD) Metabolic-associated Steatohepatitis and (MASH)
Both are a subcategory of steatotic liver disease.
- MASH: hepaitis- fat in the liver that is causing inflammation and hepatocyte cell injury, leading to fibrosis, cirrhosis and hepatocellular carcinoma. It is the second most common cause of liver transplant (after alcohol), but it is the fastest growing. It is the liver manifestation of metabolic syndrome.
What do patient's generally report precedes the onset of the symptoms?
- viral infection
- 50% are long-covid cases. Recent increase in total number of cases due to covid.
Everglades National Park
Florida
What is the DSM-5 criteria for Autism?
deficits in 3 areas of communication and social interaction across multiple settings, and at least 2 restrictive or repetitive behaviors.
Pervasive developmental disorder and Asperger's individual terms that are no longer used, and fall under Autism Spectrum.
High and low functioning are no longer used terms.
Termed based on severity levels: needs some support (level 1), needs substantial support (level 3)
Name 3 differential Dx for nausea and vomiting in pregnancy
Biliary pathology, pancreatitis, thyroid disorder (Hyperthyroidism), pyelonephritis, kidney stones, molar pregnancy, cannabis hyperemesis syndrome
Name 2 co-morbid conditions
- HTN, HLD, T2DM, OSA, CKD, CVD: you must screen for all of this if MAFLD
MCC of death: CVD
Strongest predictor to progress to MASH: T2DM, overweight/obesity
If MASH + T2DM: 3x increase risk of hepatocellular ca
Name 2 medications for the treatment of the fatigue, brain fog, post-exertional fatigue
- low-dose Naltrexone
- Aripiprazole
- Pyridostigmine
- Guanfacine
- Stimulants rarely because help short-term but worsen fatigue due to overstimulation
Mammoth Cave National Park
Kentucky
Name co-occurring conditions with Autism-Spectrum Disorder
Metabolic: T2DM, HLD, HTN, CVD
Autoimmune: T1DM, IBD
Feeding/Eating disorders: deficiencies, decreased intake
Mental: ADHD, Depression/Anxiety, Schizophrenia, Suicide (MCC of death in ASD adults without intellectual disability)
Seizure disorder (MCC of death in ASD adults with intellectual disability)
Intellectual Disability
Movement disorder/Motor impairments
*MCC of death in younger than 15yo: accidental injury
What is a non-medication treatment option for nausea and vomiting in pregnancy
- small, frequent meals
- possibly ginger
What is a screening tool in primary care that is validated for advanced fibrosis, and cost-effective?
- FIB-4 score is a validated and cost-effective screening tool in primary care to screen for advanced fibrosis. It is not validated in those under the age of 35.
- Fibroscan or liver fibrosis panel blood test are other options for advanced fibrosis assessment
**LFTs have a low sensitivity or specificity for advanced fibrosis as it can be normal.
What medication options are used for pain outside of Pregabalin/Gabapentin?
- TCA, SNRI
- low dose Naltrexone
*For sleep, outside of Trazodone, can try Doxepin, TCA, SNRI, Suvorexant (brand is Belsomra)
Denali National Park
Alaska
What is the most important therapy for children with autism?
Speech therapy as access to communication is most important for children.
For adolescents going into adulthood (transition from peds to PCP): contraception, sexual health, infection education. IF there are cognitive limitations, legal guardianship/conservership with least restrictive oversight as possible.
What is the first line treatment option?
First line: Pyridoxine (vit B6) +/- Doxylamine
Second line: Metoclopramide > Promethazine. Risk of dystonia/extra-pyramidal s/e. Rarely tardive dyskinesia
- Ondansetron: small risk of oral clefts and congenital cardiac defects
- if GERD: PPI, H2-blocker
Third line: corticosteroids
*** There is a small risk of developing Wernicke's encephalopathy if prolonged n/v in pregnacy: also supplement with vitaminB1
What % of weight loss starts showing benefit, even if normal BMI?
5% weight loss: improved hepatic steatosis
10% weight loss: improves fibrosis
- Rx: #1: lifestyle changes
- other Rx options: GLP-1, Pioglitazone if also T2DM, bariatric surgery, avoiding alcohol, quitting smoking, any exercise, avoiding fructose containing beverages, and Mediterranean Diet
Name 3 supplements that have shown some benefit
- vitamin b12/complex
- folic acid + vitamin C
- mag, zinc
- coq-10 (most studied), L-carnitine
- evening primrose oil, Ginseng
- pre and probiotics
White Sands National Park
New Mexico