Onward to Day #3!
Adrian Sandler, MD Autism Spectrum Disorders
- Prevalence of ASD 6/1000
- Review of Hans Asperger and Leo Kanner’s early descriptions of autistic behaviors
- Triad: qualitative impairment in reciprocal social interaction; qualitative communication impairment; narrow, restricted range of interest, insistence on sameness, repetitive behaviors
- Of the three, impaired social relatedness is really the core of the diagnosis (theory of mind development abnormal)
- Language: form of language dissociated from function of language
- Repetitive behaviors - very insistent on routines, special interests, pre-occupation with parts of things, stereotypic movements
- Myths: child is not affectionate, does not form attachments, never makes eye contact, does not communicate, engages in serf-stimulatory behaviors or repetitive behaviors all the time.
- Not all children with poor social skills have Asperger’s syndrome.
- The autism epidemic: dramatic increase in awareness, recognition of broad spectrum, earlier diagnosis, epidemic of over-diagnosis of Asperger syndrome and high-functioning autism.
- Brain abnormalities: macrocephaly in early childhood (30%). Brainstem abnormalities suggest onset in 1st trimester. MRI is not diagnostic, not a routine part of the evaluation.
- Sibling concordance is 7%, older parental age is a risk factor
- Chromosomal abnormalities: 22q deletion, 15q11-q13 inverted duplications, many other genes implicated
- Syndomes: Fragile X, Rett, Tuberous sclerosis, Down’s
- Whole genome arrays are turning up new syndromes like 16p11.2, PTEN.
- Genetic syndromes now identifiable in 15 to 20% of all patients with ASD’s
- Earliest signs: joint attention, social interaction, play behavior all delayed/impaired
- Watch for following a point by 10 months, pointing to an object by 12 months, pointing to indicate interest by 15 months.
- In the second year look for child to manipulate parents’ hands as though they are tools in the child’s control.
- Ask open-ended questions: “How does he usually communicate to you? What are his favorite things to do?”
- Home movies research demonstrates even experts cannot identify autism earlier than 12 months of age.
- Home movies confirm that regression does occur in about 1/3 of children with ASD, usually between ages 12 and 24 months.
- Research on siblings also shows a threshold of around 12 months to identify children with ASD
- For children ages 4 to 6 the Social Communication Questionnaire is helpful.
- In Asheville the MCHAT has not led to a large increase in the number of patients referred to the CDSA. of 63 referrals only 20 came in, only 5 had ASD (6 had developmental language disorder)
- Improved functional behavioral assessment could reduce over-prescription.
- Easy to prescribe for each symptom (sleep, agitation, constipation) leading to polypharmacy
- Medical home can help avoid over-prescribing for ASD symptoms
Sara Sinal, MD Recognition of Child Abuse
- Law requires you to inform law enforcement and DSS of serious physical abuse
- Must report suspected abuse to DSS but not to law enforcement.
- Skin injury (excluding burns) is the most common presenting sign
- Head injuries are most common cause of death from child abuse, but abdominal injury has the highest percentage of deaths per injury
- Risks: poverty, unmarried mom, living with unrelated adult, child with disability/prematurity/multiple birth, substance abuse in family
- Document extensively in the chart, include photographs when possible
- Be sure to note who witnessed the event, what happened after the event, and what the mechanism of injury was
- Does the story change over time, was the injury blamed on a younger sibling?
- Document past medical history, especially failure to thrive in infancy, fracture under one year of age, deaths or serious injuries in siblings
- Examine skin in mouth, genitals very carefully, also look carefully at TM’s, extremities
- For bruising get basic coagulation evaluation, consider hematology consult.
- Amylase, lipase, and LFT’s screen for abdominal injury (SGOT > 80 suggests abdominal CT)
- Check calcium, phosphorous, Alk phos, 25-OH vitamin D with fractures.
- Osseous survey under age 2, not over age 5, depending on suspicion between ages 2 and 5
- MRI or CT if bruising to face or head.
- Abdominal CT if bruising to abdomen
- Can’t really age bruises by color, no matter what they say on CSI!
- Look for pattern injuries such as looped cord, tennis shoe prints, coat hanger, etc.
- Remember mongolian spots, phytophotodermatitis, vasculitis, cupping/coining, pot-mortem insect bites.
- Burn patterns: dipping, hot liquid thrown at child, contact with flame.
- Less common burns: chemical, frostbite, microwave/oven burns
- 39% of burns requiring hospitalization result from abuse/neglect.
- Scene investigation is critical
- Mimics of burns: severe diaper rash, bullous impetigo, epidermolysis bullosa
- Fractures in 11% to 55% of abused children, 50% will have multiple fractures
- The younger the child the more likely a fracture is from abuse
- Spiral femur fractures are not unusual in children who are mobile, but under 1 year of age remain a red flag for abuse.
- Paul Kleinman, MD has published tables of fracture types versus likelihood of abuse
- Differential diagnosis: Osteogenesis imperfecta, Rickets, Menkes syndrome, bizarre diets causing copper deficiency, non-weight-bearing children with osteopenia, premature birth with history of parenteral nutrition, Lasix, Leukemia, osteomyelitis, Vitamin A toxicity
- http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/default.asp to learn all about osteogenesis imperfecta
- Risks for abusive head trauma: mom <21>
- 64% of parents gave no explanation in the face of seriously ill child
- Retinal hemorrhage present in 76%
- Permanent injury rate 50%, death 22.5%
- Trigger: crying in young infants
- Abdominal trauma has a 45% to 50% fatality rate
- Victims often young, preverbal. Hard to see signs of injury, no easy studies (CT abdomen)
- Hollow viscus injury suggests abuse
Jane Bellet, MD Practical Approaches to Common Skin Disorders
- Describe lesions well when communicating with dermatologists
- Atopic dermatitis is exemplified by pruritis. These kids scratch!
- Both frequency and severity of atopic dermatitis has been on the increase
- Eyelid involvement is a hallmark of eczema
- Look for early age of onset, atopy, xerosis.
- Must rule out scabies, contact dermatitis, seborrheic dermatitis, psoriasis, ichthyoses
- For eczema look for lymphadenopathy, hypo- or hyperpigmentation (don’t put steroids on those spots if inflammation is gone), pityriasis alba, lichenification, superinfection, papular variants in African American children.
- Bathe at least once a day, short (5 to 15 minutes maximum).
- MOISTURIZE!
- Topical steroids
- Itch control: use antihistamines!
- Treat superinfection!
- Try wet wraps, wet pajamas, gloves/socks over medications (don’t wash for 10 to 14 days)
- Look for Tubifast Garments, may be covered by insurance http://www.skincareworld.co.uk/pharmacy/our_products/tubifast/garments.htm
- Medicate with strong enough medications, enough quantity
- OINTMENTS better than creams. Oils good for the scalp
- Good meds: hydrocortisone 2.5% ointment, Triamcinolone 0.1%, Mometasone 0.1%
- If you’re looking at Fluocinolide 0.05%, Clobetasol 0.05% think dermatology referral
- Protopic 0.1% is preferable to Elidel. Best preserved for use around the eyes.
- Remember Protopic will burn if areas of open skin are present
- Hydroxyzine is best for itch control, 0.5 mg/kg in daytime, 1 mg/kg at night.
- Doxepin useful in severe cases
- ZYRTEC is a LOUSY medicine for itch control in atopic dermatitis.
- Treat superinfection with oral antibiotics.
- Get a bacterial culture in superinfection!
- Mupirocin for all open areas, can mix with topical steroids
- Cephalexin, Clindamycin, Trimethoprim/sulfa best agents
- Seal in steroids with moisturizer
- Oral steroids are NOT indicated for atopic dermatitis
- TINEA CAPITIS. Consider fungal culture if picture is not clear.
- Still treat with griseofulvin, 20 mg/kg/day (microsize), 10-15 mg/kg/day (ultramicrosize). Give with fatty foods! Treat 6 weeks.
- Now terbinafine granules are available, 2-4 week course. Consider LFT’s. Save this for griseofulvin failures.
- Oral fluconazole, itraconazole, ketoconazole are alternative back up meds
- Id reaction: usually starts after onset of therapy, must treat through it.
- Kerion: treat fungal infection, but also consider oral antibiotics for bacterial superinfection. Some people try oral corticosteroids x 2 to 4 weeks.
- Try two courses of therapy, then refer to dermatology
- Vitiligo: white hairs are a clue if any question about diagnosis (poliosis).
- Vitiligo over joints is especially difficult to treat
- Wood’s lamp can help with diagnosis. Presence of rash in that spot in the past suggests post-inflammatory hypopigmentation
- Vitiligo is characterized by DEpigmentation, not HYPOpigmentation
- Treatment starts with potent topical steroid BID. Can consider Protopic, especially on face. Phototherapy is helpful. Can use 308 nm excimer laser
- Coverups: Dermablend, Covermark
- Consider checking thyroid antibodies in non-segmental vitiligo (very rare to have a thyroid condition with vitiligo)
- Reassure parents most people won’t turn completely white.
- ALOPECIA AREATA
- Usually sudden loss of hair, sharply demarcated, smooth without any hair at all, may have pitting of nails (Scotch plaid pitting)
- Consider trichotillomania, tinea capitis.
- If there are just a few patches prognosis is good.
- The younger the child the worse the prognosis
- Treat x 3 to 6 months to see if something is going to work.
- Use class II or I topical steroids
- Dermatologist may use intralesional corticosteroids
- Also anthralin, minoxidil, squaric acid, dphenylcyclopropenone
- Pediatrician can start topical steroid while waiting for referral, but most parents will want a referral.
- www.naaf.org
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