DHH Causes & Syndromes

• rare genetic
• X chromosome only - therefore females only
• absence of center of brain (corpus callosum)
• its job is to communicate between left/right sides of brain = MR
• Identified around 3-5 months of age

• infantile spasms
• MR
• mircrocephaly
• pro-encephalic cysts
• lesions of retina (very specific to this disorder)

• X-chromosome linked
• sensorineural loss
• kidney disease
• eyes
• blood platelets cause bleeding complications
• males more than females (even through x chromosome)

• test for blood and protein in urine
• hearing tests for sensorineural loss
• extended family history

• blood supply doesn't get enough oxygen
• sensorineural loss from damage to the cochlea
• see other card on asphyxia

CP, MR, and just about everything else can be effected by asphyxia

• C- coloboma (eye problems)
• H - heart
• A - atresia choanae (blockage of nasal passages from back of nose to throat)
• R - retarded (MR)
• G - genital anomalies
• E - ears (deformed ears and deafness)

• conductive
• sensorineural
• mixed (both)
• ranges from mild to profound

• deafness
• eyes
• DD
• SLP - oral motor
• many surgeries for heart, breathing, tethered chord

• deafness
• retina pigmentosa
• DD

• microcephaly = neurological abnormalities
• photosenitive skin
• photosensitive eyes
• growth retardation
• disproportionately long limbs
• skeletal malformations with knee contractures

• DD
• behavior similar to austism
• deafness
• vision problems (cornelia)

• low birth weight - often under 5 lbs.
• delayed growth and small stature
• small hands and feet
• limb differences (sometimes missing or only portions of limbs)
• microcephaly
• thin eyebrows meeting at midline
• long eyelashes
• short upturned nose, thin downturned lips
• excessive body hair
• partial joining of the 2nd and 3rd toes
• incurved 5th fingers
• feeding problems
• gastro-esophageal (GE Tract problems) can be mild to acute
• cleft palate
• seizures
• heart defects

• What are CdLs behavioral concerns?
• <>
• behavior looks like autism...
• agressiveness
• violence
• self-mutilation
• self-stim
• lack of interpersonal connections
• repetitive motions
• rigidity of behavior

• Cytomegalovirus
• CMV
• sensorineural loss due to chronic ear infections of inner ear
• jaundice
• DD
• retina diseases
• anemia
• enlarge liver, spleen, and/or encephalitus

• What is Down's?
• *94% of Downs have it as a result of trisomy 13 (3x/#21 chromosomes)
• MR & DD
• significant hearing and vision
• PT - reduced muscle strength and tone
• facial characteristics & oral motor issues
• sleep apnea
• heart
• gastrointestinal
• blood/skin
• endocrine (hypothyrodism and GI tract)

• What interventions are needed for Downs?
• SLP: Oral-motor/articulation
• SLP: Voice husky, breathy, low pitch
• up to 75% with hearing difficulties which are mostly conductive, some sensorineural
• typical MR education training depending on the level on IQ
• May need OT/PT

• Encephalitis
• infection from virus causes inflamation of brain
• sensorineural hearing loss in one or both ears
• vision impairments
• *Encephalitis with meningitis is known as meningoencephalitis

FAS

Fetal Alcohol Syndrome

• 3 major characteristics of FAS?
• pre/postnatal growth retardation
• CNS dysfunction = ranges from MR to SLD
• craniofacial abnormalities

What are some of the physical characteristics of FAS?

• microcephaly
• wide set eyes
• small and thin body during childhood
• failure to thrive/low birth weight

What are some behavioral characteristics of FAS?

• significant behavioral and emotional disturbances
• irritable baby! can't console crying
• temper tantrums and moody
• poor impulse control
• OCD and ODD behavior
• no sense of danger, strong willed

• microcephaly
• widely spaced eyes
• small, upturned nose
• thin upper lip
• cleft lip, palate or submuccous cleft
• midface hypoplasia (under developed)
• flat phitrum
• malcclusion
• ear malfunction of the pinna and middle ear
• protuberant ears, poorly rotated
• poorly formed concha
• small teeth with faulty enamel
• What are interventions for FAS?
• early ID and intervention
• positive caregiver-child interaction
• monitor hearing
• SLP - traditional articulation therapy
• SLP - voice therapy
• check for visual

• Goldenhar Syndrome
• cognital birth defect
• deformitities of the face (usually 1 side only)
• microtia - partially formed or totally absent ear
• missing eye
• chin can be closer to affected ear
• one corner of mouth higher than other
• *aka OAV (oculoauicular dysplasia)

• Goldenhar Syndrome Interventions
• mostly conductive hearing loss, occassionally sensorineural
• SLP - oral motor
• occassionally MMR
• surgeries: fusion of bones in neck, spine, cleft palate

• Herpes
• vision
• hearing - high frequency sensorineural loss

• Hydrocephaly
• water on the brain -
• if not treated...MR
• small face
• seizures
• cleft lip and palate
• heart
• kidney

Leber's Congenital Amaurosis

• ID first 6 months of life
• blindness or severe vision impairment
• nystagmus - rolling of eyes
• stereotyped behaviors - eye rubbing, eye pressing, eye poking
• deafness
• autistic traits
• cardiopathy
• cerebellar hypoplasia

• Meningitis
• inflammation of membranes covering the brain and spinal cord
• from bacterial and viral
• *bacterial can be deadly
• *most common cause of deafness
• sensorineural loss - usually severe to profound

• Moebius Syndrome
• 6th and 7th cranial nerves not developed fully
• lifetime facial paralysis
• may not be able to blink, smile, frown, no lateral eye movement, facial expression
• inability to suck, excessive drooling
• cross eyes
• deformed tongue or jaw
• webbed or missing fingers, club foot
• low muscle tone - especially upper body

• Interventions for Meobius Syndrome
• hat or sunglasses (because can't squint)
• SLP - feeding, sucking, oral motor issues, drooling (possibles tubes needed)
• SLP - articulation of closed mouth sounds & sounds using lip movement
• PT - motor delays in upper body, low tone
• conductive loss - tubes in ears

• Neurofibromatosis
• catagory of CNS genetic disorders
• cause tumors to grow on nerves
• NF1 = before age 10, changes in skin appearance, bone abnormatilities
• NF2 = bilateral tumors on 8th nerve, hearing loss, tinnitus, pool balance,
• headache, facial pain, facial numbness from pressure of tumor on nerves

• What are the other 3 names for Rubella?
• German Measles
• 3 day measles
• Gregg's Syndrome

Rubella

• hearing loss
• vision
• MR
• BD
• heart disease

• Other problems
• low birth weight
• poor bone developmetn
• live and spleen enlarged
• microcephaly
• jaundice
• anemia

• hearing loss
• Myopia
• joints & bones
• oral/facial structures

• ***both disorders are connective tissue disorders
• ***so similar that some say they are the same thing

• SLP - oral motor
• PT - gross motor for joints and bone issues
• myopia - very near sighted

• deafness
• blindness
• MR
• CNS
• bones/skeleton
• teeth

• early signs:
• loss of hair
• nails falling off
• lesions
• fever/pneumonia

• 2nd most common congenital infection, passed to the placenta
• ingestion of raw, poorly cooked meat
• contact with animal feces

• sensorineural hearing loss - mostly high frequency loss
• vision loss
• MR
• seizures
• microcephaly, hydrocephaly

• *remember baby Juliann on uTube
• microtia - small, deformed ears + bone conduction (some CI)
• middle ear problems (3 small bones)
• wide mouth - cleft palate surgery
• sunken face, prominent nose, small jaw/chin
• eyes slant and hang downward
• respiratory problems - some need tracheotomy
• notch in lower eyelids called a coloboma

• congenital hearing losses
• progressive visual impairment due to retinitis pigmentosa
• Balance issues
• family history - passed down
• 50% of Deaf-Blind have a form of Ushers

3 types

90-95% have either US1 or US2

photosensitivity to light starts with night blindness and leads to tunnel vision

• congenital deafness - profound loss/sensorineural
• NO hearing aid benefits/some CI benefits
• culturally Deaf
• severe balance issues - absent inner ear
• slow motor development due to balance issues (rarely learn to sit up or walk before age 18 months)
• night blindness by 10 yrs
• tunnel vision by 16 yrs

• born HOH with sloping sensorineural loss,
• hearing aides help
• normal balance
• *vision problems deteriorates slowly:
• night blindness in early teens
• tunnel vision in late teens to early 20s

• born with good or mild hearing but worsen over a decade or 2
• teenager/early adulthood "looks like" Type 2
• older people "looks like" Type 1
• progressive balanced disturbance
• night blindness begins during puberty
• tunnel vision in the 20s

• patches of light or white skin
• eyebrow extending toward middle of face
• nose abnormalities
• premature graying of hair (by age 30)

• think Nikki
• born deaf or HH - sensorineural
• briliant sapphire blue eyes or 2 different colored eyes
• white lock of hair on forehead
• inner corner of eye displaced to side (dystopia canthorum)
• immediate family member with Waardenburg Syndrome

• OM
• PT/OT vestibular balance
• hearing aids, CI, FMs, etc...
• braille instruction
• low vision services
• auditory training
• independent living training

• mostly females
• conductive hearing loss or sensorineural hearing loss by dysplasia
• deformity of spine
• short neck muscles
• eyeball retraction
• lateral gaze

auditory brainstem response

• problem with nerves so sound isn't normally processed
• ABR is missing or abnormal
• sound enters ear normally, but signals from inner ear to brain are impaired

• can affect people with normal hearing to profound loss
• can affect young or old

• Sounds can be
• out of sync
• fade in and out
• hard to recognize spoken words

• passed down through families
• abnormal sponge-like bone grows in middle ear
• stops ear from vibrating in response to sound waves

• most common cuase of middle ear hearing loss in young adults
• about 10% in US, mostly woman age 15 - 30

• middle ear infections
• build up of fluid or pus
• conductive hering loss

• not common anymore in the US
• infectious disease caused by strep bacteria
• deafness can occur from sinus infections, abscesses of the ear, then mastoiditis

• deafness for some
• normal intelligence
• birth defects that affect multiple organ systemsV= vertebral abnormalities
• A=anal atresia
• C= cardiac defects
• T= tracheoesophageal fistula
• E= esphageal atresia
• R= renal (kidneys)
• L= limb abnormalities
• S= single umbilical artery instead of 2 (2 is normal)

• one-sided severe deafness - unilateral
• destroys inner ear - sensorineural
• does NOT affect the balance

• sensorineural hearing loss
• spread through contaminated food or water

• Conductive Hearing Loss
• middle ear or external ear
• blocking sound to the cochlea

• Sensorineural hearing loss
• aka "nerve damage" (misleading)
• inner ear problem
• tiny hair cells called cilia are damage

• Atresia is a condition in which a body orifice or passage in the body is abnormally closed or absent.
• Examples of atresia include:

• Imperforate anus - malformation of the opening between the rectum and anus.
• Microtia- Absence of the ear canal or failure of the canal to be tubular or fully formed (can be related to Microtia- a congenital deformity of the pinna (outer ear).)
• Biliary atresia - Condition in newborns in which the common bile duct between the liver and the small intestine is blocked or absent.
• Choanal atresia - blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.
• Esophageal atresia - affects the alimentary tract causing the esophagus to end before connecting normally to the stomach.
• Intestinal atresia - malformation of the intestine, usually resulting from a vascular accident in utero
• Ovarian follicle atresia, atresia refers to the degeneration and subsequent resorption of one or more immature ovarian follicles.
• Pulmonary atresia - malformation of the pulmonary valve in which the valve orifice fails to develop.
• Tricuspid atresia - a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection.
• Vaginal atresia - vagina or subsequence adhesion of the walls of the vagina occluding it.
• Potter sequence - decreased size of the kidney leading absolute no functionality of the kidney, usually related to a single kidney.

blockage of the back of the nasal passage, usually by abnormal bony or soft tissue.

• deafness
• MR
• short from spinal defects
• puffy fingers
• more males

• HH - inappropriate responses vs. blurting
• HH - doesn't understand directions vs. follow-thru w/ directions
• HH - frequency needs repetition vs. can focus w/ strict control
• HH - acadmic failure vs. academic/behavioral/social failure
• HH - no/poor self-concept vs. low self-esteem
• HH - doesn't seem to listen vs. can't sit still