pws video clip case of evelyn - ddna · thick viscous saliva: increased caries •thermoregulatory...

2017 DDNA Annual Conference

02/03/2017

Terry Broda, NP, CDDN 1

Genotypes & Phenotypes: An Overview of Genetic Syndromes

in Persons with Intellectual & Developmental Disabilities

Part 2

Terry Broda, NP-PHC, CDDN

–Overview of Syndromes & Epilepsy :

• Prader-Willi syndrome

• Angelman

• 22q- (VCFS)

• Smith-Magenis

• Williams

• Phenylketonuria

• Tuberous Sclerosis

PWS video clip

https://www.youtube.com/watch?v=lZgz_09eLw4

Https://www.youtube.com/watch?v=JDmvqLK7S_0

ttps://www.youtube.com/watch?v=K8WRpDRGQ5A

Case of Evelyn

Prader-Willi syndrome

• In infancy – Hypotonia

(‘floppy baby’)

– Feeding difficulties w/ FTT

• Then btwn 1- 6yrs old: – Rapid wt gain w/ central obesity

– Hyperphagia w/ food-seeking, hoarding & foraging behaviors

Prader-Willi syndrome

Genetic cause:

• Paternal deletion of a small part (15q11-q13) of chromosome 15 (70%)

• UPD maternal uniparental disomy of chromosome 15 (25%)

• Imprinting problem on chromosome 15 (<5%)

at 15q11-q13 (increased risk of recurrence)

https://www.youtube.com/watch?v=JDmvqLK7S_0







https://www.youtube.com/watch?v=K8WRpDRGQ5A




02/03/2017


PWS-Common characteristics

• Obesity

• Short stature w/ decreased levels of growth hormone

• Small hands & feet

• Almond-shaped eyes

• Hypogonadism

3 Causes of Obesity in PWS

• Hyperphagia w/ decreased satiety

• Decreased caloric requirements likely d/t hypotonia, decreased activity & short stature

• High threshold for vomiting & decreased pain perception (eating large quantities without discomfort)

PWS

• Obesity-related illness:

–Diabetes

–HTN

–Hyperlipidemia

– Sleep apnea (ST memory impairment)

–Pica

–Cellulitis (skin-picking)

PWS

• Elevated tolerance to pain

(may have injury or # but may not c/o pain)

• Decreased or absent vomit/gag reflex

• Thick viscous saliva: increased caries

• Thermoregulatory instability (masked fever)

• Osteoporosis( increased risk of # ), scoliosis, kyphosis

• Adrenal insufficiency (so check cortisol levels during times of severe illness or injury!)

• Seizures in 10-20% of PWPWS, but are relatively mild, are easily treated & often resolve w/ time

PWS: monitoring

• Developmental & educational assessment along with speech therapy assessment

• Assess males for cryptorchidism

• Strabismus in infants & children

• X-rays to r/o scoliosis

• Bone density to r/o osteoporosis, most likely will need calcium supplementation

• Annual BMI

• HgbA1C for those with significant obesity

• Sleep study to r/o sleep apnea

• Psych assessment to r/o OCD & psychosis

Case of Maria


02/03/2017


PWS - Intervention Strategies... Food issues:

**DO NOT USE FOOD AS A REWARD OR PUNISHMENT

• Caloric intake: 800-1200cal/day

• Calcium & vitamin supplements: high risk for osteoporosis

• Limit access (locks on cupboards, fridge)

• Environmental changes (PWS residences)

• Teach Heimlich maneuver to caregivers

PWS - Intervention Strategies...

Tantrums: (*verify if due to food issues!!)

• DO NOT ARGUE

• BE CONSISTENT (provide structure & routine)

• set firm limits

• written rules/contracts (with them)

• allow time to settle

• change the environment (quiet area)

• diversion, humour (but not sarcasm)

PWS - Intervention Strategies...

Skin-picking: • Reinforce + behavior • cut nails short • encourage alternative activities/distractions:

collages, scrapbooks, Play-Doh, playing cards, hand cream, puzzles (*scheduling)

• bandaids may be helpful as an initial layer to be removed before skin-picking can occur (liquid bandaid, long term drsg-duoderm/allevyn)

• HANDWASHING!!!!!

• N-Acetylcysteine & Topiramate has helped some for skin-picking

Intervention Strategies Educational strategies:

• a.m. classes when person is more alert

• consistency with breaks, lunchtime

• demo’s, pictures, models to teach

• specific choices (ex. red or blue crayon not which one)

• Nurturing: encourage helping others, taking care of pets (Jobs? Volunteer opportunities?)

• using puzzles (jigsaw) => provides flow!

• extra physical activities: Regular exercise, toning & strengthening exercises, cycling, skating, dancing, trampoline use & PT all can help maintain healthy weight

Intervention Strategies Psychiatric considerations:

• OCD (food rituals - but may also make poor food

choices, hoarding, ordering, repeating)

• Depression

• Psychosis (more common in UPD: ~ 100%)

• ASD (more common in UPD: ~ 38%)

• Anxiety

SSRIs helpful for OCD, psychosis & mood

GHRT: Growth hormone replacement Tx

• Improves final adult height, muscle tone, BMD & lean body mass, & decreases body fat.

• Increases energy, activity & strength, respiratory muscle forces.

• Body shape & facial features may normalize if Tx started early (age 2 or earlier)

• May even have some cognitive benefit!

• However, should be started in infancy, if possible

• But NEED SLEEP STUDY FIRST to assess for OSA (tonsils & adenoids may grow quicker than the pharynx if OSA is left untreated & GHRT started!)


02/03/2017


PWS- Strategies • Replacement of sex hormones for hypogonadism

in boys may be helpful.

• May require Sx for undescended testes

• Modafinil may be helpful for daytime sleepiness

• No medications are known to aid in controlling hyperphagia yet…. – The Rhythm drug, RM-493

– The Zafgen drug, beloranib

• https://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments/

In-patient facilities for PWS

Since 1982: The Prader-Willi program at the Children’s Institute of Pittsburgh

In 2012: HealthBridge Children’s Hospital in Houston started their program

Case of Manon & Simon

AS video clips

• https://www.youtube.com/watch?v=U5J0kvFSTtA

• http://angelmanuk.org/

• http://www.angelman.org/understanding-as/diagnosis/

Angelman Syndrome • Identified in 1965 by Dr. Harry Angelman • “Happy Puppet” until 1982 : I/DD, laughing ++, ataxic

gait, complex communication needs Genetics of AS: • Microdeletion on maternal chromosome 15 (75%) • UPD uniparental disomy (paternal X2) (3%)

(low recurrence risk) • Imprinting defects on maternal chromosome 15

(deactivated UBE3A section) (2%) (increased risk of recurrence)

• UBE3A mutation (5-10%) more common in familial AS (increased risk of recurrence)

• Mosaicism

Angelman syndrome

• Epilepsy (86-96%), most by age 3, with a very typical EEG (rhythmic slow wave + sharp/spike activity)

(May have non-convulsive status (just a little ‘off’))

• Ataxia (100%)

• Scoliosis (more common w/ advancing age)

• Strabismus (42-75%)

• Sleep problems common

• Complex Communication Needs

(expressive impairment > receptive impairment, difficulties with labelling, describing & echoing/imitating sounds/words)

• Individuals w/ UPD, may have less severe ataxia, seizures & language impairments

https://www.fpwr.org/prader-willi-syndrome-diagnosis-treatments/












http://www.angelman.org/understanding-as/diagnosis/















02/03/2017


Epilepsy in AS

• Baseline MRI & EEG to assess for epilepsy (*AVOID AEDs that increase GABA levels –vigabatrin (Sabril) & tigabine Also avoid phenobarbitol, carbamazepine, oxcarbazepine as they may

exacerbate myoclonus)

Some helpful Therapies: • Clobazam (Onfi) & benzodiazepines: BDZ (broad coverage but

may worsen absence sz) • Ethosuximide (Zarontin) ESM (vs absence & myoclonic sz only) • Lamotrigine (Lamictal) LTG (helpful but may exacerbate

myoclonus in higher doses) • Levetiracetam (Keppra) LEV (vs myoclonus & atypical absence) • Topiramate (Topamax) TPM (convulsive & focal sz) • Valproate (Depakote) VPA (vs all sz types) • Ketogenic/LGI (low glycemic) diet (broad spectrum & can help

all sz types) Tx to avoid prolonged, frequent seizures that would impact on cognitive function & learning: BALANCE!

AS: monitoring

• Baseline MRI & EEG to assess for epilepsy (*AVOID AEDs that increase brain GABA levels –vigabatrin &

tigabine) (VPA ++SE, LMG & Lev also but CLBZ OK!)

• Adults may also have non-epileptic myoclonus (does not respond as well to meds, CLNZ ok)

• MSK exam: assess ataxia & scoliosis: w/ age • Ophthalmology consult to r/o strabismus & assess

visual acuity • Assess for FTT (tongue movements/protrusion => swallowing

problems), GERD & constipation • Consults for communication & educational

strategies, SLP, PT & OT

AS-Intervention Strategies... Communication strategies: • Offer choices (2) & provide item ASAP • Sign language, may be simple gestures • Objects of reference (Velcro straps for travelling, if this is

the only time they use straps; toothbrush, hairbrush, piece of quilt from bedding for sleep)

• Miniatures (smaller hairbrush, toothbrush, spoon, etc)

• Photos • PECS (communication book) • Yes/No cards • Big Mac (button w/ vocal recorded device), then

choice of 2 Big Macs to offer choice

AS-Intervention Strategies...

Increase physical activities:

• Hippotherapy

• Hydrotherapy/swimming (*SUPERVISION)

• ROM exercises

• Therapy ball, floor exercises

Intervention Strategies...

For sleep problems:

• Active day with exercise!

• Establish a routine HS & pm (naps)

• Snack before bed

• Very dark bedroom, dark blinds/curtains

• Weighted quilt/blanket

• Waterbed

• Split-style door

• White noise machine/ fan/ soft music


For sleep problems:

• Egg crate mattress, soft blankets

• Warm bath before bed

• Warm milk hs

• Warm H2O bottle on abdomen

• Sleep does improve w/ age but insomnia still quite high in adults

• Melatonin 1st choice

* sensitivity to heat: irritability/hyperactivity


02/03/2017


Anesthesia considerations

• No specific concerns re. anesthetic agents used, even though those w/ microdeletion also have deletion of GABA receptor gene & this is commonly the receptor for benzos

• Caution w/ various agents d/t seizures in persons w/ AS

• Anecdotal incidents of bradycardia due to increased activity of the vagus nerve

Case of JoJo

Videos of VCFS

Faces of VCFS: https://www.youtube.com/watch?v=IQUIclwYVhI

UCMIND:

https://www.youtube.com/watch?v=_xQE2uT4Cw8

Dempster Family Foundation:

https://www.youtube.com/watch?v=jz8VeqdE2qE

AKA…

• Shprintzen, Velocardiofacial Syndrome (VCFS)

• DiGeorge

• Conotruncal Anomaly Face Syndrome

• Autosomal Dominant Opitz G/BBB

• Sedlackova Syndrome

• Cayler Cardiofacial Syndrome

Prevalence: 1/4000 – 1/6395

22Q- (VCFS) • Microdeletion of 22q.11.2 • Many cases may be missed if mild symptoms: it is the MOST

common microdeletion in humans! • AKA DiGeorge syndrome, Shprintzen syndrome (VCFS) & can

include the following deletions: TBX1 gene deletion: • Palatal abN => 70% (velopharyngeal incompetence, cleft

palate/lip • Cardiac anomalies => 70% • Hypoparathyroidism => 17-60%, w/ hypocalcemia • Immune deficiency => 60% w/ hypoplastic thymus COMT gene deletion: • Behavioral & Mental health issues AUTOSOMAL DOMINANT (one microdeletion can cause it)

VCFS/22q- syndrome

• ENT: Cleft palate, otitis, deafness

• Cardiovascular abnormalities (85%): R aortic arch (52%), Tetralogy of Fallot (21%), ASD, VSD (62%) : should have echocardiogram & ECG

• Visual problems: cataracts, tortuousity of retinal vessels (30%), strabismus

• Immune deficiency (77%) (*AVOID live vaccines, blood transfusions) (r/t thymus)

• Hyperthyroid

• Hypoparathyroidism w/ hypocalcemia

• Autoimmune thrombocytopenia (Low platelets): clotting issues

• Leg pain may be common, as well as scoliosis, arthritis (RA)

• Renal abnormalities: (absent/dysplastic/multicystic kidneys, hypospadius, reflux, obstructive uropathy)

• Mental health issues: anxiety disorders, bipolar disorder, schizophrenia & depression

• Increased risk for early onset Parkinson’s

https://www.youtube.com/watch?v=IQUIclwYVhI








02/03/2017


Intervention Strategies • Multi-disciplinary approach: geneticist for family

counselling/screening, cardiology, ENT, endocrinology, ophthalmologist, GI/feeding specialist, immunologist (PRN), kidney U/S baseline, C-spine X-rays after 4 yrs of age for vertebral screening, audiology & SLP, OT, PT PRN

• Speech therapy (ARTICULATION!)

• Pharyngeal flap Sx possibly

• CA supplementation PRN

• CBC monitoring

• Thyroid function monitoring

• Aggressive Tx of infections (impaired Tcell function)

• Thorough Pre & Post-op assessments of pharyngeal area

Intervention Strategies

• Provide structure

• use reinforcement

• encourage self-talk/thinking aloud to decrease impulsivity

• computers: to help with reading & spelling, also with math & abstract problem-solving

• Genetic counselling d/t variability of presentation (adults may go undx’ed until a child is born w/ VCFS!)

VCFS - Intervention Strategies…

Medication strategies:

• mood-stabilizers (AED ’s)

• **avoid SSRI ’s/tricyclics - may induce mania

• *Ritalin may also induce hypomania

• may require antipsychotics (more studies

needed)

Additional Resources

• http://www.ucdmc.ucdavis.edu/mindinstitute/research/cabil/resources.html

• 22q.ca

• http://www.22q.org/

Case of Kelly

SMS Video clip

http://www.ucdmc.ucdavis.edu/mindinstitute/research/cabil/resources.html



http://www.22q.ca/

http://www.22q.org/

http://www.22q.org/


02/03/2017


SMS

• Short stature common in youth, then normalizes

• Excess weight and/or obesity

• Skeletal anomalies: brachydactyly, scoliosis, 5th-finger clinodactyly, 2/3 toe syndactyly, forearm & elbow limitations, vertebral anomalies, & polydactyly.

• Otolaryngological: velopharyngeal insufficiency, a hoarse deep voice & vocal cord nodules & polyps are also common; hearing loss (60% of patients) is variable & may be mild to moderate.

SMS • Microdeletion of chromosome 17p11.2 • 1/15,000 – 1/25,000 • Craniofacial features: brachycephaly, frontal bossing, hypertelorism,

synophrys, upslanting palpebral fissures, midface hypoplasia, a broad square-shaped face w/ depressed nasal bridge, an everted upper lip with a ``tented'' appearance, and micrognathia in infancy.

• Dental anomalies: tooth agenesis & taurodontism.

• Short stature common initially • Excess weight and/or obesity in teens and adults are common. Other

skeletal anomalies include brachydactyly, scoliosis, 5th-finger clinodactyly, 2/3 toe syndactyly, forearm and elbow limitations, vertebral anomalies, persistent fetal finger pads, and polydactyly. Otolaryngological problems such as velopharyngeal insufficiency, a hoarse deep voice, and vocal cord nodules and polyps are also common; hearing loss (60% of patients) is variable and may be mild to moderate.

SMS

• Vision problems: myopia, strabismus (30-100%)

• Infections: onychotillomania (30%)

• SIB: Polyembolokoilamania (25%)

• ENT problems: otitis & hearing loss, anomalies of the palate (63-81%)

• CV abnormalities: ASD, VSD, valvular stenosis (27-29%)

• Scoliosis (42-65%)

• Renal abnormalities (28-35%)

• Pain/heat tolerance: Peripheral neuropathy (75%)

• “Self-hug” & “lick & flip”

SMS: monitoring

At Dx:

• ROS: PE & Neuro exams

• Renal U/S, Echocardiogram, Spinal x-rays

• Ophthalmology consult, ENT consult, PT, OT

• Speech & language evaluation, audiology

• Bldwk: immunoglobulins, lipids, TFTs

• Sleep diary & sleep apnea studies PRN

SMS: monitoring

Annually:

• PT, OT, SLP

• TFTs

• Fasting lipid profile

• U/A

• Monitor for scoliosis

• Ophthalmology

• ENT: otitis & sinus problems

• Audiology: sensorineural hearing loss

SMS: monitoring

PRN assessments:

• EEG (CT, MRI may also be needed)

• Urology W/U if frequent UTIs

• If microdeletion extends into 17p12 then adrenal function must be assessed (SMS = 17p11.2)


02/03/2017



Educational strategies:

• sign language, speech therapy

• structured activities, routines

• small classes, individual attention (designate them as the teacher ’s helper)

• computers

• well-matched with teacher ( Ø power struggles)

• use creativity, humor


For sleep problems:

• (*see AS slides for other interventions)

• Very dark bedroom, dark blinds/curtains

• Weighted quilt/blanket (massaging hands & feet may also help)

• split-style door, enclosed bed (Vail bed)

• SAD lights (pineal gland) (inverted circadian rhythm)

• Melatonin

Intervention Strategies For aggression & SIB:

**CAREFUL W/ PHYSICAL INTERVENTION

• try to redirect to another activity

• try to determine triggering factors & eliminate them

• applying nail polish may decrease onychotillomania

• Rx: oral contraceptives, SSRI’s, mood-stabilizers (AED’s)

• *There has been a relative “calming” noted in adulthood

SMS – other concerns...

• Tactile defensiveness – may present as stripping of clothes!

• Hugging –can be aggressive: rib-crushing

• Polyembolokoilamania (orifice-stuffing) can include vagina/rectum (vs ? abuse)

• Cavities: large pulp chambers & low levels of enamel

• Peripheral neuropathy (numbness/tingling in fingers & toes) (SIB:hand-biting?)

Case of Carlyne

•

Williams syndrome

http://abcnews.go.com/2020/video/2020-teen-missing-illinois-grocery-store-25959353?tab=9482930&section=1206863&playlist=6627259

http://www.youtube.com/watch?v=xC2j4HoWimE





















02/03/2017


Williams syndrome

• Strabismus

• Hyperacusis

• Cardiac malformations: supravalvular aortic (75%) or pulmonic stenosis, HTN, renal artery stenosis

• Renal anomalies w/ frequent UTI

• GI: colic, reflux, constipation, ulcers, diverticuli

• Hernias (umbilical & inguinal)

• Hyperlaxity in youth, contractures w/ age

(risk of scoliosis, kyphosis, lordosis)

• Anxiety

Williams: monitoring

At time of Dx:

• PE & Neuro exam

• Growth chart monitoring

• Consult cardio (echo & Doppler)

• Consult Urology (U/S bladder & kidneys)

• BUN, creatinine & U/A

• Serum calcium & Ca/creat in urine

• TFTs

• Opthalmology consult

• Developmental exam: speech, cognition

WS: monitoring

Lifelong:

• Cardiac: BP X 2 arms annually (HTN risk) monitor for: mitral valve prolapse, aortic insufficiency, arterial stenosis

• Ca+ in serum & urine q. 2 yrs

• *NO PEDIATRIC VITAMINS for WS kids (vit D)

• Monitor & Tx constipation aggressively!

• Screen adults for sensorineural hearing loss, diabetes & hypothyroidism

WS - Intervention Strategies...

• Limit distractions: study cubicles, desk at front of classroom or in calmer area facing a wall, periods of quiet time, decreased flow of traffic in room

• Encourage ‘talking-through-it’ during problem-solving & use of concrete objects/situations (real $ & real-life situations)

• Encourage use of computers, calculators

WS - Intervention Strategies...

• Tape recorded homework instead of written assignments

• Schedule with photos for daily activities

• Digital watches for telling time

• Music therapy/lessons

• Work: people-oriented jobs vs. assembly-line type of work

Intervention Strategies

Hyperacusis:

• ear plugs

• quieter environments, limited distractions

• provide warning prior to loud noises (alarms, sharpener, bells)

• comfort the person during their distress

• if room is too loud, leave the area

• *hyperacusis vs. paranoia!


02/03/2017



Anxiety/Fear:

• provide reassurance (but with set limits to attention-seeking behavior)

• Use distraction by changing topics after initial reassurances

• CBT-cognitive behavioral therapy

• Pharmacotherapy (*with caution!): start with low doses since WS persons are Rx-sensitive (Ex. Ritalin, tricyclics & )

WS - Intervention Strategies

Social skills:

• Use ‘buddy system’ to practice social skills, role-plays, & social stories

• Topics to cover: how to make & keep friends, approaching others, taking turns, conversational skills, dealing with romantic issues & sexuality, how & why to be wary of strangers

• Group therapy can increase self esteem (but may not be appropriate for some d/t anxiety or ADHD)

Chronic Constipation

Monitoring:

• Bristol stool form

Positioning : legs bent at the knee, with thighs elevated to h pressure on the abdomen (crouching) (rocking on the seat)

• Interventions:

• Stool softeners to maintain regularity & prevent rectal prolapse

PKU video

Phenylketonuria

• Inborn error of metabolism

• Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine (Phe) and produces a spectrum of disorders including phenylketonuria (PKU), non-PKU hyperphenylalaninemia (non-PKU HPA), and variant PKU

• Autosomal recessive

PKU

• Blond/light hair (increased phenylalanine inhibits melanogenesis)

• Sclerodermoid changes

• Generalized hypopigmentation

• Blue eyes

• Eczematous dermatitis

• Developmental disability

• Hyperreflexia, spasticity

• Seizures

• SIB, aggression, ADHD, pica


02/03/2017


PKU

In the hours after a protein-rich meal, persons with PKU will often experience:

–Nervousness

– Fatigue

–Difficulty concentrating

–Problems memorizing

–Difficulty completing complex tasks

Phenylalanine

• Essential amino acid : the body cannot produce it so it comes from food

• Source of Phe: in foods containing proteins that break down into amino acids: – Meat & substitutes (fish, eggs, nuts & grains,

legumes) +++

– Milk products +++

– Cereals ++

– Fruits & vegetables +

– Aspartame +++

PKU- Dietary principles

• Monitor Phe levels

• Assure adequate protein & caloric intake to keep Phe levels within safe range

• Consistency (no cheating!)

• Dietician: dietary intervention for life & needs to start ASAP!

PKU diet

• Phenylalanine : A restricted intake of Phe is necessary but a

minimim amount is required by the body. Low Phe levels can lead to other problems:

lethargy, anorexia, anemia, dermatological issues and diarrhea.

– Females > 19yrs: 220-700mg/day –Males > 19yrs: 290-1200mg/day

PKU Diet • Fruits & vegetables +++ • No meat or substitutes • No milk products or limited amounts • No restriction (other than for weight concerns!) • « Tang », regular colas, tea, coffee, iced tea,

vegetable oil, Jello, clear candies, honey, regular popsicles…

• ►ALL foods can contain some Phe so it NEEDS to be calculated :

• Can be used as a “limited intake treat”. • 15mg = 1 treat

PKU Diet

• Frequent bldwk to monitor Phe levels in early yrs (q. week eventually q. month)

• Phe levels btwn 2-6mg/dl (120-360μmol/L)

• Abnormal bloodwork:

wait for 2 elevated Phe results before adjusting the diet & then suggested Phe dietary decrease by 10%

• Regular monitoring of weight & adjust diet accordingly


02/03/2017


Medication: sapropterin (Kuvan)

• Increases tolerance to phenylalanine

• To use in combination w/ PKU diet

• More long term studies needed to determine true efficacy & safety in the long-term

Tuberous Sclerosis Complex

• 2/3 cases spontaneous, 1/3 are inherited forms

Two main organs affected (85% have both): • Brain (70% have sz within 1st yr of life) • Skin But virtually all organs can be affected. • 1/3 of children will develop infantile spasms

There are 40 TSC clinics in USA (22 serve all ages!) TSC1 (hamartin) or TSC2 (tuberin) mutations: obtain 3 generation family history

Tuberous Sclerosis

• Tubers, subungal fibromatas

• Epilepsy (90%)

• Rhabdomyomata, angiomata (47-67%)

• Renal deterioration & failure (45-81%)

• Ocular issues: hamartoma, astrocytoma (up to

75% )

• Hamartoma that may lead to liver failure

(up to 75%)

Tuberous Sclerosis Complex

• Tubers, subungal fibromatas (PAIN!)

• Epilepsy (90%)

• Cardiac rhabdomyomata, angiomata (47-67%)

• Renal deterioration & failure (45-81%)

• Ocular issues: hamartoma, astrocytoma (up to 75% )

• Hamartoma that may lead to liver failure (up to 75%)

TSC

Teeth, skin & nail findings:

• Dental pits (48-100%)

• Gingival fibromas (33%)

• Facial angiofibromas/forehead plaques (77-86%)

• Hypomelanotic macules (“ash-leaf spots”) (3 +) (95%)

• Shagreen patches (48-54%)

• Confetti spots

• Ungual fibromas (nails) (11-23% ado; 88% adults)

TSC

Perform TAND to assess for TSC-associated Neuropsychiatric disorder:

• Developmental disability

• Autism

• PDD

• OCD

• Anxiety

• Mood disorders

• Chronic sleep disorders


02/03/2017


TSC: monitoring • Genetic testing if not yet done

• Cranial CT/MRI for kids & ados to check for tubors & subependymal giant cell astrocytoma (SEGA), may require resection & shunt

• EEG for sz F/U or investigation

• High resolution chest CT q. 5-10 yrs, PFTs annually

• ECG initially & q.3-5yrs; echocardiogram q.1-3 in kids

• MRI abdomen q.1-3 yrs to monitor for renal cysts; BP & eGFR (creatinine) at least annually

• Ophthalmology annually + fundoscopic exam

• Perform exam with Woods lamp to assess skin annually

• Dental exam q. 6 months, w/ Panorex by age 7

TSC: Rx

• Vs seizures: – AEDs (Vigabatrin vs infantile spasms, or ACTH 2nd

choice)

– Surgery to remove tumors/tubors

– mTOR inhibitors to shrink SEGA

– VNS?

• Vs sleep problems: melatonin

• Vs facial angiofibromas: laser Tx

• Also mTOR inhibitors (sirolimus (rapamycin) or everolimus, to induce tumor regression) vs lung, kidney, skin & other tumors

pws video clip case of evelyn - ddna · thick viscous saliva: increased caries •thermoregulatory...

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