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Vitamin Deficiency in a Child with Autism

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Xerophthalmic fundus = yellow-white spots in the peripheral retina ... Xerophthalmic fundus lesions normally disappear within 2-4 months. Ocular Management ... – PowerPoint PPT presentation

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Title: Vitamin Deficiency in a Child with Autism


1
Vitamin Deficiency in a Child with Autism
  • Shani Cunningham, DO
  • Baylor College of Medicine
  • Houston, TX

2
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.

3
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

4
Case Presentation
5
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.

6
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.

7
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

8
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

9
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

10
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

11
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

12
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

13
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

14
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

15
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

16
Diagnosis
  • Severe Keratoconjunctivitis Sicca (dry eyes) of
    both eyes…
  • Etiology…???

17
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

18
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

19
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)

20
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

21
Xerophthalmia and Vitamin A Deficiency
Picture downloaded from World Health Organization
website (www.who.int)
22
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

23
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

24
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

25
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

26
Bitot Spots (Metaplastic Keratinization)
27
Keratomalacia
Figure demonstrates diffuse corneal necrosis and
ectasia
28
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

29
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

30
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

31
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.

32
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

33
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.

34
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

35
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
    deficiency and xerophthalmia in an autistic
    child. Arch Ophthalmol. 1998 Mar116(3)392-3.
  • 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
    Autism Spectrum Disorders A Review. Focus on
    Autism and Other Developmental Disabilities, v21
    n3 p153-166 Fall 2006
  • Schwarz S. Feeding Disorders in Children With
    Developmental Disabilities. October/November/Decem
    ber 2003 - Volume 16 - Issue 4 - p 317-330
  • Herndon AC, DiGuiseppi C, Johnson SL, Leiferman
    J, Reynolds A.Does nutritional intake differ
    between children with autism spectrum disorders
    and children with typical development? J Autism
    Dev Disord. 2009 Feb39(2)212-22.

36
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