Scurvy and Autism Spectrum Disorder

7/27/2019 Scurvy and Autism Spectrum Disorder

1/29

MORNING REPORT

Brittany Esty


2/29

History of Present Illness

10 year old male with history of Autism SpectrumDisorder, sensory integration dysfunction, presentingwith right leg pain

Patient started limping 3 days prior to admission

2 days prior to admission limping progressed, taken toPCMC ED and XR of right ankle noted osteopenia butno cause for pain.

The following day, he was complaining what seemedmore like right knee pain per mother. He was taken to

PCP. Xray at PCP office of the hip did not reveal anyacute concerns. He went back home

The next morning, patient refused to bear weight thatprompted mother to bring in for repeat evaluation


3/29

Review of systems

20-pound loss September-August.

Severely Restricted diet and eating smaller portions at meal-time. Patient refused to eat on the day of admission

Rash that began in his upper arms (September) andprogressed to involve forearms and thighs (April) to now(August) spreading to legs, back, chest, neck and cheeks

Significant bruises and "wakes up every morning with a newbruise" per mom

Chronic diarrhea

Mood changes, more irritable

No mental status changes, fever, night sweats, dysphagia,nausea, emesis, dyspnea, cough, or change in urinary orbowel habits

Otherwise ROS negative


4/29

PHI

PAST MEDICAL HISTORY:

Autism (diagnosed before he turned 2)

Sensory Integration Dysfunction, oral aversion

Developmental Delay, language

Chronic diarrhea

Chronic Sinusitis

Hospitalized for dehydration, rotavirus, cellulitis

PAST SURGICAL HISTORY:

Dental procedures: tooth extraction (2-3 months ago),routine cleanings, fillings


5/29

PHI continued

MEDICATIONS:

Vitamin D drops, does not tolerate (refusing meds by mouth)

Sertraline 10mg daily, but not taking as refusing meds by mouth

ALLERGIES: no known allergies

FAMILY HISTORY: Mom denies family history of eczema,psoriasis or mental health problems.

SOCIAL HISTORY: Lives with mom, stepdad and younger brother.

Has a dog at home. Mom reports many stressors in the last 5years (changing homes, changing schools and teachers,grandparents divorcing and then remarrying).


6/29

PHI continued

DIET:

Mostly consists of Cheetos, grilled cheese,

chocolate chip, cheeseballs, chocolate pudding,

chicken nuggets, Cheez-Its and Sprite. Per mom, he never eats fruits or vegetables and

she has been unable to give him a multivitamin.

Mom reports decrease quantity of food intake

starting around April, as well as an even more

restricted diet only Cheez-Its and Sprite recently.


7/29

PHYSICAL EXAM

VITALS: Wt: 35.6kg (64%ile, was 96%ile in 2011), Height 137cm (31%ile,was 90%ile in 2011), BP: 113/75, HR:96, RR:16, T: 37.6

GENERAL: Patient laying in bed, awake, minimal verbal response, no acutedistress, thin appearing but not obviously cachectic.

HEAD: Normocephalic and atraumatic, hair slightly dry, not obviously brittle

EYES: Pupils round, reactive to light, no conjunctivitis, mucous or discharge.EOM intact.

EARS: No pits or tags. Could not examine TM due to patient sensitivity

NOSE: No mucous crusts or blood

OROPHARYNX: Mild hypertrophy and bleeding in lower and upper gums.No erythema, swelling or lesions. Tongue looks slightly atrophied withsmall papillae

NECK: No anterior/posterior lymphadenopathy, full ROM

CARDIOVASCULAR: Normal rate and rhythm. No murmurs or gallop. Strongperipheral pulses, Capillary refill


8/29

PHYSICAL EXAM

ABDOMEN: Soft, non-tended, non-distended. No pain to palpation. Bowel soundspresent. No HSM.

EXTREMITIES: Warm, well perfused. No cyanosis, clubbing or edema, nails not brittle,big toe nails with slight koilonchyia. Generally decreased muscle mass. Pain topalpation over right right distal femur/right knee but no surrounding swelling orareas of trauma. Patient with knee in flexed position and refusal to extend knee

joint. No tenderness to palpation over the right ankle. Unable to assess hip range

of motion but no tenderness to palpation over hip joint. No joint effusions.GENITOURINARY: Descended testicles. No pubic hair. Circumcised.

SKIN: Multiple ecchymosis in bilateral shins and knees at various stages ofhealing. Multiple non-blanching red and purple, hyperkeratotic papullar lesionsaround hair follicles over anterolateral legs thigh, lateral arms, back, chest, neckand cheeks. Normal turgor.

NEURO: no distress, normal gross motor movements, normal fine motor movements.

responding to questions appropriately although not very verbal. Gait: Bears minimalweight on the right leg. Knee remained in flexed position and allows leg to brieflytouch without weight. No ataxia. Unable to illicit patellar reflex on right, but right

Achilles reflex normal. Sensation intact bilaterally.


9/29

Case Summary

10 year old male with history of Autism Spectrum

Disorder, sensory integration dysfunction, with

right leg pain (with progressive decrease in

ambulation), rash, weight loss, and gingivalhyperplasia


10/29

Differential diagnosis

ID

Infection Osteomyelitis

Septic arthritis

Myositis

Lyme disease

Chronic recurrent multifocal osteomyelitis

Toxic synovitis

RHEUM:

Systemic lupus erythematosus

Juvenile rheumatoid arthritis

Spondyloarthropathy

Connective-tissue disorders

Dermatomyositis

HenochSchnlein purpura

Kawasakis disease

Polyarteritis nodosa

GI

Inflammatory bowel disease

ENDO:

Hyperparathyroidism Hematologic diseases

HEME

Sickle cell disease , Hemoglobinopathy

ONCO

Bone tumor

Chondroma or sarcoma

Osteoblastoma

Ewings or other sarcoma

Leukemia Lymphoma

NEURO:

GuillainBarre syndrome

Heavy-metal

LeggCalvPerthes disease

OTHER:

Truama

Vitamin A intoxication

Vitamin deficiency Rickets

Scurvy

Abuse


11/29

Ddx of Gingival Swelling

Phenytoin exposure

Pyogenic granuloma

Aphthous ulcers

Infectious gingivitis

Crohns disease

Behets disease

Dental abscess

Scurvy


12/29

Labs

CRP 2.0

ESR 13

CBC: WBC 4.4 (39N, 48L, 8M, NC 1700), Hgb 11, Hct 33.3, MCV 76, MCH27, MCHC 35, RDW 13.5, PLTS 177

CMP: Alk phos 85, otherwise normal

PT:13.7, INR:1, PTT:31, vWF:norm Zn: 61 (low normal)

Vit D: 16 (low)

Immunoglobulins: IgM 40, all others normal

Lymphocyte subset panes normal

Plasma AA and Urine OA normal TTG 3, total IgA107

T4 3.09

Fe: 57, TIBC: 254, transferrin: 22%


13/29

Labs

Vitamin C:


14/29

Vitamin C Deficiency: Scurvy

Scurvy caused by deficiency in Vitamin C (ascorbicacid) that is require for the synthesis of collagen inhumans

Reversible reducing agent that is an essential cofactor

for the hydroxylation of proline to hydroxyproline incollagen synthesis and for the hydroxylation of theneurotransmitter dopamine to noradrenaline.

Does not occur in most animals because they cansynthesize their own vitamin C. BUT, humans and

other higher primates (monkeys, apes), guinea pigs,bats, birds, and fish lack L gulonolactone oxidaseenzyme needed for synthesis of Vit C. Must beobtained through diet.


15/29

Scurvy symptoms

Many signs and symptoms of vitamin C deficiencyrelate to its essential role in collagen synthesis

Dermatologic symptoms: petechia, ecchymoses,corkscrew hairs, hyperkeratosis, and perifollicular

hemorrhages Bone disease: typically subperiosteal bleeding

Neurologic symptoms: depression and vasomotorinstability

Systemic symptoms: Malaise and fatigue

Oral symptoms: Gingival swelling andhemorrhage


16/29

Scurvy symptoms

Early symptoms:malasie andlethargy.

After 1-3 months,bone pain, skinchanges withroughness, easy

bruising, petechiae,gum disease, poorwound healing andemotional changes


17/29

Skeletal changes in Scurvy

Most severe in young children (like our patient) as theirskeletal tissue is still growing, and the periosteum is not astightly bound to the surface of the cortex as it is in adults

Deficient collagen in subperiosteal blood vessels leads torupture and hemorrhage mechanically lifts the periosteum

from the underlying cortex Reparative osteoblasts deposit reactive bone that can be

seen on plain radiography.

Similar findings occur in the metaphysis at the base of thegrowth plate reduced collagen production results in

decreased bone deposition

structural weakness

hemorrhage and fractures with minimal stress

With treatment these changes of scurvy will resolve


18/29

Body supply can be depleted in 1-3 months

Risk factors:

smoking and medications (aspirin, sulfinpyrazone,

indomethacin, phenylbutazone, tetracycline, oralcontraceptives, corticosteroids, chlorcyclizine)

increase the body's need for vitamin C

intestinal malabsorption syndromes, pregnancy

and lactation, and depressed socioeconomic orrefugee status.


19/29

Rash in Scurvy

Follicular hyperkeratosis (corkscrew hair)


20/29

Vitamin C Deficiency: Scurvy


21/29

ASD and Food Selectivity

Is it real?

Why does it happen?

Does it matter?

What do we do?


22/29

Study out of the UK (Cornish) examined the dietsof 17 children with autism spectrum disorders(ages 3 to 10 years) 10 of 17 children (59%) ate fewer than 20 different

foods Klein and Nowak study via survey to parents of 43

children and adolescents with ASD (ages 4 to 26years) assessing dental treatment, oral hygienebehavior, and nutrition, including food preferences

and eating patterns found that 53% of the participants were reported to be

reluctant to try new foods.


23/29

Factors influencing food sensitivity

Survey study done by Williams looked at 100 parentsof children with ASD (ages 22 months to 10 years)

67% of the parents reported that their child was a pickyeater

BUT nearly three quarters (73%) reported that their childhad a good appetite for foods that they liked

The factors parents felt influenced food selectivity were:

texture (69%)

appearance (58%)

taste (45%)

smell (36%)

temperature (22%)


24/29

Texture makes all the difference

Schmitt and colleagues surveyed parents of 20boys with ASD and 18 typically developing boys(ages 7 to 10 years) to complete a questionnaireon eating behaviors and food preferences and a

3-day food record. Boys with autism spectrum disorders ate a smaller

variety of foods than controls

more often made their food choices based on texture

than did the boys in the control group. Seventy percent of children with autism chose

their food based on texture, compared to 11% ofchildren without autism.


25/29

Does it matter?

Restricted food intake can lead to nutritionalinsufficiency making food selectivity apotential health risk.

Multiple studies have been done to assessnutrient intake of children with ASD, but theyhave produced conflicting results. Somestudies indicate that the nutrient intakes of

children with autism are below that of non ASDchildren while others do not demonstrate anydifferences in nutritional intake


26/29

+ inadequate nutrient intake

Cornish study (3 day dietary recall and food frequencycheck list of 17 children with ASD revealed inadequatenutrient intake

There was an inverse relationship between variety and

nutritional adequacy; as the daily variety decreased, thenumber of nutrient intakes that fell below therecommended amount increased.

Intake of protein, vitamin A, thiamin, vitamin B-12, folicacid, sodium, potassium, magnesium, phosphorous, and

copper were determined to be adequate for all children. Inadequate intakes of iron, vitamin D, vitamin C, niacin,

riboflavin, and zinc were found in one or more children.


27/29

Summary

Feeding problems in ASD are complex and

multifactorial

Food selectivity is a major problem in children

with ASD One of the consistent themes in the food

selectivity literature relates to food textures

There is high variability within this populationand we must consider and treat each

individual patient


28/29

Treatment

Close follow up and appropriate

interdisciplinary approach.

Nutritionist/registered dietitian (RD)

Occupational therapist Behavioral psychologist

Consider use of food records or 24-hour diet

recalls Laboratory screening in those at risk for

nutritional deficiencies


29/29

References

Duggan C. A 9-Year-Old Boy with Bone Pain, Rash, and Gingival Hypertrophy. N engl j med357;4: 392-400.

Cermak S et al. Food Selectivity and Sensory Sensitivity in Children with Austism SpectrumDisorders. J Am Diet Assoc. 2010; 110:238-246

Cornish E. A balanced approach towards healthy eating in autism. J Hum Nutr Diet. 1998;11:501-509.

Schmitt L, Heiss CJ, Campbell EE. A comparison of nutrient intake and eating behaviors of boyswith and without autism. Top Clin Nutr. 2008;23:23-31.

Williams PG, Dalrymple N, Neal J. Eating habits of children with autism. Pediatr Nurs.2000;26:259-264.

Klein U, Nowak AJ. Characteristics of patients with autistic disorder (AD) presenting for dentaltreatment: A survey and chart review. Spec Care Dentist. 1999;19:200-207.

Schreck KA, Williams K. Food preferences and factors influencing food selectivity for childrenwith autism spectrum disorders. Res Dev Disabil. 2006;27:353-363.

Field D, Garland M, Williams K. Correlates of specific childhood feeding problems. J PaediatrChild Health. 2003;39:299-304.

Levy SE, Souders MC, Ittenbach RF, Giarelli E, Mulberg AE, Pinto- Martin JA. Relationship ofdietary intake to gastrointestinal symptoms in children with autistic spectrum disorders. BiolPsychiatry. 2007;61:492-497.

Scurvy and Autism Spectrum Disorder

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