Vitamin Deficiency in a Child with Autism

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Vitamin Deficiency in a Child with Autism

• Shani Cunningham, DO
• Baylor College of Medicine
• Houston, TX

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Abstract

• Vitamin A is one of four lipid soluble vitamins.
  Vitamin A has been shown to play an important
  role in vision and cellular differentiation.
  Deficiency of this vitamin is seen rarely in
  developed countries, however it remains the third
  most common nutritional deficiency in the world.
  In many developing countries xerophthalmia (a
  spectrum of ocular disease secondary to vitamin A
  deficiency) is a significant public health
  concern, and one which the World Health
  Organization has taken steps to eradicate.
  Approximately 5-10 million children develop
  xerophthalmia every year. Vitamin A deficiency
  can also be seen in patients with fat
  malabsorption, dietary restrictions, and feeding
  dysfunction. Feeding dysfunction is commonly seen
  in children with Autism Spectrum Disorders (ASD)
  and pediatricians and caregivers need to pay
  close attention to the nutritional status of
  children with ASD.
• This case study demonstrates the importance of
  balanced nutrition in children, with special
  attention to those with potential feeding
  dysfunctions.

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Background/Objectives

• Illustrate the importance of Vitamin A
• Describe a case presentation of Vitamin A
  deficiency in a child with Autism
• Discuss xerophthalmia and the treatment of
  Vitamin A deficiency
• Describe the importance of nutrition as it
  relates to children with Autism Spectrum Disorders

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Case Presentation
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History of Present Illness

• Chief Complaint
• My daughter is walking and running into things,
  and always has her eyes closed
• History of Present Illness
• 9 year old female with past medical history
  significant for autism and vitiligo presents with
  difficulty seeing for one month
• Parents report she was in her usual state of
  health until four weeks ago when she developed
  cold symptoms and diarrhea that lasted for three
  days.

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History of Present Illness

• After the diarrhea subsided, the patient
  developed tearing and redness in both eyes.
• She was noted to be bumping into objects at
  school and having difficulty performing tasks at
  home.
• Parents stated patient was bringing objects up to
  her face to see them, and always seemed to be
  squinting her eyes.
• Patient was taken to her pediatrician and started
  on an ophthalmic antibiotic ointment for two
  weeks.

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History of Present Illness

• After two weeks, the parents noted her symptoms
  were worsening
• Patient was brought to the ED where she was
  uncooperative for an ophthalmic exam

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Review of Systems

• Constitutional afebrile, no weight changes
• HEENT as per HPI, no rhinorrhea, no hearing
  changes
• CV h/o heart murmur (resolved)
• Respiratory no wheezing or shortness of breath
• GI h/o diarrhea, no vomiting, change in appetite
• MSK Negative
• SKIN h/o vitiligo
• Neuro no weakness, numbness, or headaches

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Past Medical History

• Past History autism (diagnosed at 4 years old),
  vitiligo, history of heart murmur (resolved)
• Past Surgical History None
• Family History Paternal Grandfather with colon
  cancer Maternal Grandmother with arthritis. No
  history of uveitis, glaucoma, or eye surgery
• Social Lives with mother, father and brother.
  Currently in the second grade. No pets and no
  smokers at home

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Past Medical History

• Allergies No Known Drug Allergies
• Meds None (completed course of ophthalmic
  antibiotics)
• Diet Eats crackers, chicken nuggets, and apple
  juice. (Does not like milk/dairy/vegetables)
• Development Is in a program at school for
  children with Autism

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Physical Exam in the ER

• T 97.6 P 69 BP123/84 RR24
• Weight 37.6 kg Height 127 cm
• General alert, no acute distress, pale skin
• HEENT normocephalic, atraumatic, periorbital
  edema, epicanthal erythema, B/L blepharospasm
  and photophobia, EOMI, unable to adequately
  assess red reflex and sclera secondary to patient
  noncompliance. Tympanic Membranes clear B/L,
  hearing intact, Oropharynx clear B/L

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Physical Exam in ER

• Lungs CTAB, good air entry
• Heart RRR, S1S2 present, no murmur, no rubs, no
  gallops
• Abdomen soft, BS, full, nontender
• GU normal female external genitalia and Sexual
  Maturity Rating 1
• MSK non-tender, normal ROM, no clubbing,
  cyanosis, or edema
• Skin multiple hypopigmented lesions on the face
  and abdomen dry skin

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Physical Exam in the ER

• Neuro Strength 5/5 in all extremities, sensation
  intact, and normal eye hand coordination
  reflexes normal
• She walks up closely to toys in examination room
  in order to see them

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Examination Under Anesthesia

• Patient underwent a complete eye exam under
  general anesthesia
• The examination revealed
• No preauricular lymph nodes
• Lacrimal glands were normal
• Lashes were normal
• Normal meibomian glands
• Dry keratinized epithelium noted on the
  conjunctival surfaces of both eyes

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Exam Under Anesthesia

• Both Corneas demonstrated diffuse punctate
  epithelial erosions with dense interpalpebral
  localization of the erosions
• There was no corneal stromal disease, including
  inflammation and/ necrosis
• Anteror chamber, iris, and lens were within
  normal limits
• Intraocular pressures were normal in both eyes
• Dilated exam showed elevated optic nerves due to
  optic disc drusen, normal macula, vessels, and
  periphery

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Diagnosis

• Severe Keratoconjunctivitis Sicca (dry eyes) of
  both eyes
• Etiology???

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Differential Diagnosis for Keratoconjunctivitis
Sicca

• Aqueous Tear layer deficiency
• Sjögren syndrome (autoimmune condition)
• Non-Sjögren syndrome
• Sarcoidosis, Vitamin A deficiency, Stevens
  Johnson syndrome, Surgical removal of lacrimal
  gland, etc.

• Evaporative Etiologies
• Meibomian gland disease ? decrease in oily layer
  of tear film
• Exposure i.e. secondary to inadequate eyelid
  closure
• Defective blinking
• Contact lens association

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Upon Further Review

• Patient has an extremely limited dietary intake
• eats only gluten free chicken nuggets, crackers,
  and diluted apple juice
• Patient presumed to have Xerophthalmia likely
  secondary to Vitamin A deficiency

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Labs

• Hemoglobin/Hematocrit 10.6/31.4 (MCV 90)
• WBC 15.1, Platelets 346,000
• ANA Screen Positive
• ANA Titer gt/ 640
• ANA Pattern Speckled
• Rheumatoid Factor lt16 (Negative)
• Sjogrens Syndrome Antibodies
• Anti SS/A19 (Negative)
• Anti SS/B 8 (Negative)
• Serum Vitamin A Level 0 (undetectable)

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Treatment

• Silicone Punctal Plugs were placed in both lower
  eyelid puncta
• Lacri-Lube ophthalmic ointment was placed in both
  eyes
• Vitamin A Injections (100,000 IU) on POD 0,
  POD1, and POD 14, then every 6 months until
  her diet shows sufficient Vitamin A intake
• Dietary assistance to help family select a
  variety of foods

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Xerophthalmia and Vitamin A Deficiency
Picture downloaded from World Health Organization
website (www.who.int)
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Background of Vitamin A

• Over 90 of Vitamin A is stored in the liver
• A normal child in a developed country will
  commonly have adequate liver stores of vitamin A
• When liver stores decrease ? serum retinol levels
  will eventually decrease
• Physiological consequences of vitamin A
  deficiency generally begin at levels below 10
  micromoles/liter
• It is estimated that one million child deaths
  would be prevented each year if vitamin A
  nutrition were improved

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Xerophthalmia

• Xerophthalmia includes all the ocular signs and
  symptoms of vitamin A deficiency, where the eye
  fails to produce tears
• Major cause of blindness in children worldwide
• Vitamin A deficiency xerosis is associated with
  loss of mucus production by the goblet cells ?
  changes in the epithelial structure in various
  parts of the body
• Approximately 5-10 million children develop
  xerophthalmia every year, and it is responsible
  for approximately 20,000-100,000 new cases of
  blindness worldwide every year
• Malnourished infants and babies born to vitamin A
  deficient mothers are at highest risk of
  xerophthalmia

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Demographics

• In more developed countries, xerophthalmia tends
  to occur in patients with
• Specific dietary restrictions
• Lipid malabsorption
• Diarrhea
• Children with measles can have a sudden
  decompensation of marginal vitamin A status
• Infections (i.e. tuberculosis)
• Children with xerophthalmia are often severely
  ill and have high mortality rates

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Ophthalmic Clinical Presentation

• Nyctalopia (night blindness) is often the
  earliest symptom of vitamin A deficiency
• recent onset nyctalopia in a preschool child is
  typical of vitamin A deficiency
• Prolonged deficiency leads to external ocular
  disease
• Xerosis (dryness of the conjunctiva and cornea)
• Metaplastic keratinization of the conjunctiva
  (known as Bitot spots)
• Corneal ulcers and scars
• Late stage diffuse, full-thickness corneal
  necrosis (keratomalacia)
• Xerophthalmic fundus yellow-white spots in the
  peripheral retina
• Patients will have photophobia and reflex
  blepharospasm secondary to the corneal
  involvement

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Bitot Spots(Metaplastic Keratinization)
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Keratomalacia
Figure demonstrates diffuse corneal necrosis and
ectasia
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World Health Organization Classification

• Stages
• Conjunctival Xerosis (without X1A or with X1B
  Bitot spots)
• Corneal Xerosis X2
• Corneal Ulceration, with keratomalacia involving
  lt1/3 X3A or gt1/3 X3B of the corneal surface
• Corneal Scar XS
• Xerophthalmic Fundus XF

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Management of Vitamin A deficiency

• Laboratory diagnosis of serum vitamin A levels
  and/ retinol-binding proteins confirms the
  diagnosis
• Immediate administration of massive doses of
  vitamin A
• Oral administration is preferred after diagnosis
  (110 mg retinyl palmitate or 66 mg retinyl
  acetate (200,000 IU vitamin A)) the dose is
  repeated the following day additional dose given
  1-4 weeks later
• Rarely, intramuscular injection needs to be
  substituted
• Of note, children aged 6-11 months ? dose should
  be halved Infants lt 6 months ? ¼ normal dose
  beware in women in reproductive age
• Patients should continue to eat foods rich in
  vitamin A (i.e. fish and animal livers,
  fish-liver oil, egg yolk) or beta-carotene

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Management contd

• Many of the ocular conditions usually respond
  rapidly to vitamin A therapy
• Nyctalopia responds, usually within 48 hours, to
  vitamin A therapy
• Active conjunctival xerosis and Bitots spots
  resolve within 2-5 days Corneal xerosis responds
  within 2-5 days
• With therapy, superficial ulcers typically heal
  and deeper ulcers form a dense scar
• Xerophthalmic fundus lesions normally disappear
  within 2-4 months

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Ocular Management

• In the presence of corneal involvement,
  broad-spectrum antibiotic eye ointment can be
  used q8 hours to decrease the risk of secondary
  infections
• It is important to maintain adequate lubrication
• A topical retinoic acid is not commercially
  available in the U.S.A.

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Vitamin A deficiency and Autism

• Steinemann et al and Clark JH et al each reported
  a case report of an autistic child who presented
  with xerophthalmia, and remarked on the
  importance of monitoring for potential
  nutritional deficiencies in children with autism

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Feeding Disorder and Autism

• According to Ledford et al Reports from parents,
  teachers, and clinicians .. suggest that
  aberrant feeding behaviors are present in a
  substantial number of children with ASD.
• Schwarz ? concluded the term behavioral feeding
  disorders relates to children with ASD who may
  have aversive eating behaviors (i.e. food
  refusal, gagging, expulsion) or sensory-based
  feeding problems
• Herndon et al showed that children with ASDs ate
  significantly less calcium and dairy servings
  than children with typical development.

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Conclusion

• Vitamin A deficiency is the leading cause of
  blindness in children worldwide
• Xerophthalmia includes abnormalities in the
  corneal and conjunctival secondary to vitamin A
  deficiency which can eventually lead to corneal
  ulceration and potentially blindness
• Children with Autism Spectrum Disorders (ASD) are
  at higher risk for vitamin deficiency due to
  feeding disorders

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References

• Humphrey JH, West KP Jr, Sommer A Vitamin A
  deficiency and attributable mortality among
  under-5-year-olds Bulletin of the World Health
  Organization, 1992, 70 225232
• Control of vitamin A deficiency and xerophthalmia
  Report of a Joint WHO/USA ID/Helen Keller
  International/IVACG Meeting Geneva, World Health
  Organization, 1982 (WHO Technical Report Series,
  No 672)
• Sommer A et al. Oral versus intramuscular vitamin
  A in the treatment of xerophthalmia. Lancet,
  1980, 1 557559
• Harris EW, Loewenstein JI, Azar D. Vitamin A
  deficiency and its effects on the eye. Int
  Ophthalmol Clin 199838(1)155-61.
• Sommer A, West KP Jr. Vitamin A deficiency
  Heaalth, Survival, and Vision. New York Oxford
  University Press 1996.
• McLaren DS. Vitamin A deficiency disorders. J
  Indian Med Assoc. 1999 Aug97(8)320-3.
• Steinemann TL, Christiansen SP. Vitamin A
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• Clark JH, Rhoden DK, Turner DS. Symptomatic
  vitamin A and D deficiencies in an eight-year-old
  with autism. JPEN J Parenter Enteral Nutr. 1993
  May-Jun17(3)284-6.
• Ledford, Gast. Feeding Problems in Children with
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  n3 p153-166 Fall 2006
• Schwarz S. Feeding Disorders in Children With
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• Herndon AC, DiGuiseppi C, Johnson SL, Leiferman
  J, Reynolds A.Does nutritional intake differ
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Thank You!