Cognitive Sensory Rounds

Fragile X Syndrome


Fragile X syndrome (FXS), also known as Martin-Bell syndrome, or Escalante's syndrome
Genetic
Half autistic
Intellectual disability
Physical: Long face, large ears,
Behavioral characteristics: Social anxiety,


Down Syndrome





Down Syndrome:
Chromosomal abnormality – trisomy 21 – accompanying medical conditions include:
Heart malformations (40-45%), TEA, Hirschsprungs, thyroid or immune dysfunction, leukemia

Assessment findings:
Enlarged anterior fontanel
Small round head with flattened forehead
Upward outward slant to eyes with depressed nasal bridge
Short stature, short neck, protruding tongue, transverse palmar crease
Muscle weakness, hypotonia
Mental capacity varies

Tests:
Chromosome analysis, echocardiogram, vision/hearing tests, thyroid function tests

Nursing Care:
Assist parents with coping
Assist with feeding due to possible hypotonia
Monitor growth and development
Refer as needed and provide necessary
Support if surgeries needed for heart or strabismus

Education to include: respiratory care, skin care, diet to prevent constipation, obesity, can have vision and hearing problems, Respiratory infections due to hypotonia and mouth breathing

Autism Spectrum Disorders


Sensory Processing Disorder



Autism Spectrum Disorder:
Possible genetic component
Delays in social interaction, social communication, imaginative play
Spends time alone, avoids eye contact, withdraws from physical contact, labile emotions
Sensory sensitivity
Delays in speech, may grunt or hum, echoalia
Unusual attachment to objects
Distress when routines or surrounding changed, repetitive movements

Assessment:
Checklist for Autism in Toddlers (CHAT)
Refer to speech, OT, PT, support groups, respite if needed
Assist with behavior modification
Decrease environmental stimulation
Introduce to new situations slowly

Medications may be used to help with compulsions, labile emotions and attention problems: SSRIs, melatonin

Hearing





Hearing impairments:
Infants are screened at birth
Can be congenital (toxic sub in pregnancy, anatomic malformations, Downs syndrome) or acquired (ototoxic substances, chronic ear infections, foreign bodies)
Conductive (physical blockage) or sensorineural (interference with nerve pathways)

Assessment:
No startle reflex
Failure to respond to noise
No vocalization by 7 months
No response to spoken word
Later children will gesture rather than speak
Irritable, angry since unable to gain caregivers attention
Withdrawn, inattentive

Treatments can include:
Hearing aids
Surgery

Nursing care:
Use sign language or interpreter to communicate with child
Assess environment for safety issues
Refer for support

The earlier vision and hearing problems are identified the better the outcome!







Visual



Vision Difficulties:
Can be attributed to prenatal conditions such as rubella, postnatal conditions such as retinopathy of prematurity or chronic conditions such as sickle cell or JIA.

Myopia – nearsighted
Hyperopia – far sighted
Astigmatism – uneven vision
Amblyopia – lazy eye – decreased acuity in one eye
Stabismus: inward or outward deviation of the eye
Nystagmus – involuntary movement of eyes, ‘dancing eyes’
Cataracts – Decreased ability to see clearly with gray opacity of the lens, absent red reflex
Glaucoma – Loss of peripheral vision, halos, red eye, excessive tearing, photophobia, pain, enlarged eyeball



Treatments:
Farsighted, nearsighted, astigmatism may need corrective lens
Amblyopia and strabismus may need patches or corrective surgery
Glaucoma may need optic drops or surgery
Cataracts require surgery

Tests:
Visual screening with Snellen chart or preschool chart
10 feet away, start at bottom until can read a line correctly identifying 4 of 6 characters, then back to the top and move down until can no longer pass a line

Partial visual impairment - 20/70 – 20/200
Legal Blindness – visual acuity of 20/200 or worse or a visual field of 20 degrees or less

Color vision is assessed with the Ishihara or Hardy-Rand Rittler – identify number or image embedded in colors

Peripheral vision – Pencil is moved from beyond field of vision into the field until the patient can see it. Patient says stop and angle is measured. Angle should be 50 degrees upward, 70 degrees downward, 60 degrees nasally, and 90 degrees temporally

Cover test: Patient asks to cover eye and look at object 13 inches away. Cover is removed and eye is observed for movement. (There should not be any movement).

Ocular alignment – Corneal light reflex – light shone in eye from 16 inches, reflected light should be in the same location in each eye.

Nursing Care:
Assess for eye rubbing, head tilting during reading or eye exams
If patching is required pretend to be a pirate
If surgery is required protective goggles after to prevent rubbing
Always introduce self before touching child
Orient child to new environment, describe environment to patient, do not move articles without telling patient, clock for plate
Promote independence with needed services
Interventions to assist with sensory loss
Encourage social interaction
Bright colors and large print, visual and nonvisual aids, large print books, recorded books, lighted mirror
Regular eye exams, glasses if appropriate, do not rub eyes, artificial tears, assist with, teach eye drop administration

Nursing Diagnosis:
Disturbed sensory perception
Risk for injury
Social Isolation
Diminished eyesight affects independence, leads to a lack of stimulation, inability to read, fear of blindness, coping, anxiety


Foreign body in eye/ Eye injuries









Fragile X located at
http://youtu.be/_qRwdnP1r-Y

Downs syndrome
http://youtu.be/XGZnO5Im5bM

Down's Syndrome with Ace
http://youtu.be/cZ_i3yioHlo

Autism Spectrum disorder located at
http://youtu.be/FuWWie1DlJY

Sensory processing disorder
http://youtu.be/ws5NMPKCvZI

Hearing/Sound
http://youtu.be/7O-adw-HyrQ

What its like not to hear
https://youtu.be/3yQzm_36DMY
Hearing loss
http://youtu.be/DLo8cEUNQi0

Vision
http://youtu.be/gvozcv8pS3c
https://youtu.be/p0BBRbvde2U?list=PL0845054182A36EFE
Retinoblastoma
http://youtu.be/XZQ2Za5Mwc8

Eye Injuries
http://youtu.be/9BwcSFhfXw8

Turner Syndrome
http://youtu.be/qyncB598yas

http://youtu.be/ldjb-FR-PKo