Last Updated January, 2006
Welcome to the FAQs for Smith-Lemli-Opitz
Syndrome (SLOS). This area contains information based on parent experiences that
we hope will help initiate you into the world of SLOS as well as offer some
information about the most common issues. Please note that any medicines,
therapies, medical advice, or anything of that nature that is mentioned here
should be discussed with your doctors prior to administration; each child is
different and the suggestions may not be appropriate for your situation. The information
here has been compiled mainly from the email support group archives and SLOS conferences.
We wish you well in your new journey as parents, relatives or friends of
children with SLOS and we encourage you to join the
email support group
where you may ask questions of other families and friends, and to share in both the good times and
the not so good times.
Please visit
Pub Med to find out about additional studies on SLOS.
Overview
Specialists
Synthetic Cholesterol Treatment
Pasteurized Eggs
Constipation
Reflux and GastroIntestinal
Sleep Issues
Behavior Issues
Immune Deficiency
Medications
Feeding Issues
Studies
Hearing/Communication
Insurance resources
Schooling and IEP help
Equipment and Therapies
Clothing
Pregnancy Information
Books and Learning Websites
Tips and Tricks
Recipes
Photos
SLOS Overview
Smith-Lemli-Optiz syndrome, in layman's terms, is the inability to correctly produce or
synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme. Cholesterol
is an essential nutrient for every cell in a person's body. It is
needed to develop and grow appropriately, thus the reason for developmental
delay in those with SLOS. It is a metabolic genetic issue and is estimated that as many as 1 in 30 people are carriers for the
syndrome. There is a wide range symptoms and degrees of health,
but the majority of those with SLOS can live to adulthood given the proper
treatment and careful monitoring for levels of sterol cholesterol
and 7-DHC (the latter being the precursor to cholesterol production). Current treatment is to give cholesterol either in synthetic form,
or via natural foods such as egg yolk and cream, or a combination of both. A
short list of some of the major issues faced by those with SLOS are:
- heart, liver, or kidney problems
- low or extremely low muscle tone;delaying or inhibiting development and speech
- cleft palates or high palates
- oral aversions and feeding problems, often failure to thrive
- reflux, sometimes severe requiring surgery
- ptosis of the eyes, sometimes requiring surgery
- cateracts
- behavioral issues such as outbursts and self-abuse
- inability to sleep
- sensitivity issues to textures and environments
- constipation; sometimes with a secondary diagnosis of Hirshprungs Disease
- sensitivity to the sun
- communication problems; good receptive language abilities, but unable to communicate well
- hearing issues
- weaker immune systems
- scoliosis; brittle bones; osteoperosis
- allergies
- sporadic red cheeks, blueish nailbeds and lips
- small veins (hard to draw blood)
There are two ways to test for SLOS. A specialized blood test to measure the level of 7-DHC is the most common test.
This test requires a standard blood draw and then the blood is sent to a lab that can do tandem mass-spectometery to
break down the cholesterol into parts: sterol cholesterol, 7-DHC and 8-DHC. There are approximately a dozen labs in
the United States that can perform this test including KKI, Baylor, Mayo clinc, OHSU, and Dr. Tint's lab. The second
way to test is to have molecular
testing (also known as DNA testing) done to look for the known SLOS mutations. This also requires a blood draw. Most
families get the diagnosis of SLOS by way of the 7-DHC test and then have the DNA testing done so that they may inform
family members who also may wish to be tested; especially those of child bearing age.
Specialists that parents have contact with:
Kennedy Krieger Institute
707 North Broadway
Baltimore, MD 21205
Dr. Richard Kelley
email: RKelley3@jhmi.edu
phone: (443) 923-2783 or (443) 923-2782
The best time to reach him is between 7 pm and midnight on Monday and Tuesday evenings.
Dr. Elaine Tierney (psychologist)
email: tierney@kennedykrieger.org
phone: (443) 923-7657
Fax: (443) 923-7628
Becky Kern (genetic counselor)
Feeding clinic
intensive 2 month, inpatient feeding therapy program
phone: (856) 358-8202
National Institutes of Health
Bethesda, MD
Dr. Forbes (Denny) Porter
email: fdporter@helix.nih.gov
phone: (301) 435-4432 or (301) 440-4432
lab (301) 435-4431
Beth Solomon (Speech Language Pathologist)
email: BSolomon@mail.cc.nih.gov
Boston Children's Hospital
300 Longwood Ave.
Boston, MA
Dr. Mira Irons
phone: (617)355-4697
Oregon Health Sciences University (OHSU)
Portland, Oregon
Dr. Robert Steiner
phone: (503) 494-7859
Dr. William Connor
phone: (503) 494-2001
Julia Jordan (nutritionist)
email: jordanju@ohsu.edu
phone: (503) 494-7601
The Children's Hospital
1056 East 19th Avenue B365
Denver, CO 80218
Dr. Ellen Elias
phone: (303) 861-6739
Dr. M. Natowicz - Cleveland, Ohio
Dr. M. Nowaczyk
Hamilton
Ontario, Canada
phone: (905) 521-5085
Great Ormond Street
London, United Kingdom
Prof. Peter Clayton
Prof. Patten
http://www.ich.ucl.ac.uk/gosh/clinicalservices/Metabolic_medicine/ContactUs
Synthetic Cholesterol
The synthetic form of cholesterol is obtained mainly through being part of a
research study, although some families have been given the formula and taken it to a
local pharmacy that is willing to make the mixture. The mixture is crystalline cholesterol
suspended in some form of medium such as a water based (aqueous) solution, soybean
oil, or olive oil. The amount of synthetic cholesterol given varies, based on child, but
the average is 150-250 mg/dl. The dosing of synthetic cholesterol is much higher than if
using natural forms such as raw egg yolks due to the difference in the body's ability to
absorb the cholesterol from the different mediums. It is best to administer the cholesterol supplement separate from other
medications for better absorption.
The specialists have determined via research studies that there is no difference in the
effect of giving 1000 mg vs. 2000 mg of cholesterol to older children and adults with SLOS.
Most individuals have an absolute limit to the amount of cholesterol that can be absorbed
by the body, so the standard dosing given is generally about 1000 mg of synthetic cholesterol
or 500 mg as egg yolk (about 2-3 eggs) per day.
The manufacturer of synthetic cholesterol is Spectrum Chemical Mfg. Corp., (310)
516-8000. However, the synthetic cholesterol mixtures are regulated by the FDA
under the IND (investigational drug) list and should be aquired through a study
or via the specialists' help. The hope is that the trials will prove that
the supplemental cholesterol helps those affected by SLOS and therefore should be an approved
drug, whereby the families could then get it through their regular pharmacy and
insurance coverage.
Since different doctors and different labs run the studies and testing, the numbers received for cholesterol counts
may differ from those given to other families. The reason for this is the interpretation of the numbers...what one
doctor may give as 94 for 7-DHC, another may give as 9.4. Keep this in mind if trying to compare notes.
Pasteurized Eggs
Egg yolks are the best source of cholesterol for people with SLOS.
Some specialists believe that raw yolks are better than cooked
yolks due to the enzymatic changes in cooked eggs, meaning that raw yolks are more
easily, and better absorbed into the body than cooked yolks. However, raw eggs carry
the risk of salmonella poisoning, so it is essential that the eggs be pasteurized if
giving raw eggs. A list of sources for pasteurized eggs follows. If pasteurized eggs are
not available in your area then the egg should be cooked before using the yolk.
Pasteurized egg yolks can be frozen for up to 12 months. It is only
necessary to give a maxiumum of 3 egg yolks per day based on the body's ability to
absorb cholesterol, regardless of age or size.
Before mixing raw pasteurized egg yolks into any foods, many families find that removing
all white and yolk membranes from the yolk help the children tolerate the textures and make
it easier for the feeding pumps to deal with.
Pasteurized Egg Company (previously Davidson's Pasteurized Eggs) also marketed by Safeway
http://www.safeeggs.com
2963 Bernice Road
Lansing, Illinois 60438
(800) 410-7619
(708) 418.8500
Fax: (708) 418.1235
Email: eggs@safeeggs.com
Available at:
ShopRite (NJ)
Publix, Kroger, Giant Eagle (various locations)
Genuardi (DE,PA,NJ)
Trader Joe's (CA,WA)
Dominicks (IL)
Tom Thumb
Randall's
Vons
Carrs
Donlean's (MA)
Also available through certain Sysco distributors. They typically do not sell direct, so you will have to find a source
that receives their goods from a participating Sysco distributor. Here is the order information:
Sysco Imperial Pasteruized Shell Eggs
order number 3602786 (large size)
must be ordered in a lot - there are 15 dozen per lot. Approximately $30.
Sysco in Norton, MA will sell direct.
Crystal Farms pasteurized eggs
phone: (800) 672-8260
Available at:
SuperTarget
supermarkets in Minnesota
Mariah's Restaurant
can order by carton from Southern Foods Distribution Co.
Buckhead Mountain Grill Restaurants (KY)
can order by carton from their distributor
Gourmet Chef Liquid Egg Yolks
Papetti's Hygrade Egg Product Inc.
1 Papetti Plaza
Elizabethtown, NH 07201
800/447-3447 or 908/354-4844
908/351-7528 (fax)
http://www.michaelfoods.com/papettis.html
Egg yolk in carton can be ordered by carriers of Papetti's products
Parents are currently using this source at Publix in FL through the following contact
Mark Buck 407/359-0947
UPC 91038-15149
Publix order number 100333
Frozen Pasteurized Egg yolk (in the UK), brandname is Daylay
Parker Foods Ltd.
Cams Alders Farm
Redlands Lane
Fareham
Hants PO16 0QH
Telephone: 01329 823777 last known contact is Peter James
Also sources for frozen yolk nuggets in High Wycombe, Bucks and in Oxford.
Egg Yolk Powder
Available from OHSU research study
phone Julia: (503) 494-6234
Small amounts are available through the research program
If ordering from the company, you get 25 lbs; 1 year's worth
Must still be refrigerated.
Constipation
Constipation is a huge issue for people with SLOS due to the low muscle tone and slow motility
of the GI tract. If the person seems to have an extreme case of constant constipation, they should
be checked for Hirshprungs (absence of nerves in the Colon). If Hirshprungs is the cause, surgery can help.
If Hirshprungs is not a factor, there are many things that may help.
Food sources are often the first line of attack. The most important of these being hydration by giving
lots of fluids. Many parents find that giving warm water to their children in addition to other fluids help, however
many SLOS kids have problems with volume and reflux, so trial and error may be required to find the right combination.
Other food sources that help are:
Prune juice
Apple/Prune Juice
Pear Juice
Prunes and Pears
Chamomille Tea
Dark Karo syrup
Cheerios
Fruits and Veggies
Oatmeal cereal is more soluble than Rice cereal
Novartis formulas are now putting benefiber in their formulas
If food does not seem to do the trick, then maybe some over the counter or prescription medication may help.
Senokot
Milk of Magnesia - magnesium is a muscle relaxant and too much is not good.
Mylanta - known to cause diarrhea
Maalox - known to cause constipation
Miralax, Glycolax or Polyethelene Glycol - only by prescription
Fibercon
Unifiber
Benefiber
Colace - stool softener
Glycol Electrolyte Solution
Maltsupex
Magnesium Citrate
Dulcolax
Lactulose
Aloe vera - buy the juice and mix it in liquids
If that fails, then suppositories or enemas may be needed.
If the child is potty trained and cannot touch the floor, using a stepstool will help with their ability
to push while toileting.
Reflux and GastroIntestinal
Unfortunately Reflux almost always goes hand-in-hand with SLOS, and more often than not, it is severe to the point
of projectile vomitting several times a day or more. Sometimes Pyloric Stenosis is to blame and surgery can
correct this by opening the pyloris. If not, and the reflux is so severe that the child cannot gain weight, then
often a fundoplication is done where the stomach and sphincter are "wrapped" to help prevent the child from vomitting.
In many cases though the reflux and vomitting is caused by allergies, slow gastric emptying, slow motility, or low muscle tone.
In these cases it often lessens with an appropriate diet or age as the child's muscles get stronger. Some parents have
even noticed that the reflux is not just random, but is instead related to bodily functions such as burping, gas,
sneezing, or bowel movents after the first several months. Commonly when SLOS children are ill or have colds, the
reflux becomes extreme and meals must be adjusted to be just pedialyte or very thin mixtures.
In addition, many of the children are very gassy and stomach massage can really help the pain and discomfort
caused by the gas, which may in turn help with the reflux.
Often medications are used to help keep the reflux in check. Here is a list of some commononly used medications:
Reglan (aka Metoclopramide)
Zantac (in some cases hair loss; histamine 2 blocker)
Prilosec (coughing in some; proton pump inhibitor)
Pepcid (proton pump inhibitor)
Trimox
Erythromicin* (can interact with other meds)
Zelnorm
Tagamet (also used for wart treatment in some cases)
Propulsid (aka Cisasperide, dangerous cardic deaths, no longer available)
Prevacid (proton pump inhibitor)
Comes in various forms: powder, pill or capsule. The company recommends for
oral fed children that you get the extended release capsules
(usually the 15mg ones) and you open it and sprinkle it into certain foods.
Recommended ones are applesauce, yogurt, cottage cheese and pudding. You would
mix the capsule with a Tbsp or two of applesauce in the morning and either tube it
through the bolus tube, followed by water, or feed it to the child.
Then wait 20 minutes and feed breakfast.
Many SLOS children also have g-tubes due to their lack of suck and swallow reflex at birth. Often the gtube site
grows granulomas and there are a few medications that can help keep the growth in check:
Triamcinalone (steroid; stops growth)
Bactroban (for infections)
Fucidin
Flamazine
Silver Nitrate application typically done at the doctor's office
Sleep Issues
Sleep patterns are typically not normal for SLOS kids. Many parents have noted distinct patterns in sleep around
the full moon or allergy related disruptions. This is one of the harder facets of parenting as sleep deprivation
hurts the whole family and is noteasily remedied. In some cases the children can go days and nights on end with
little to no sleep. Many families are wakened nightly for one or more hours. While some families use massage
to calm the children before bed others have resorted to using medications to help. What follows is a list of
medications commonly used.
Benadryll
Claritin (for snoring)
Nasonex (for snoring)
Zyrtec (allergy medication causes drowsiness; caused screaming in some)
Risperdal (also used for behvior)
Clonidine
Lower doses than used for blood pressure.
Can be dulling and not recommended for long term use.
Nitrazapam
Clonazepam
Hydroxazine
Diazepam
Cyproheptadine (sleeping pill)
Seroquel
Trazodone
Chloralhydrate (caused violence in some)
Ropinirole hydrochloride (typically used for Parkinsons; small dose, 1mg, relaxes)
Sabril
Atarax
Melatonin (affects absorption of cholesterol and not recommended)
It is unknown exactly how melatonin lowers cholesterol levels.
Evidence points to a higher rate of conversion from cholestrol
to bile acids, which the bile then excretes.
Using melatonin as a sleep aide is usually given in doses of less than 3mg,
much less than the doses that would cause this minor effect.
Behavior Issues
One of the more challenging aspects of SLOS are the constant battles with behavior. Almost all of those with SLOS show
some signs of Autism, some being diagnosed with the secondary syndrome. It appears that the sooner cholesterol
supplementation is given, the less likely an actual Autism diagnosis will be made, but autistic tendancies can be found
in almost all cases. Behavior can range from screaming, hitting, pinching, and biting, to head banging, to self-mutilation.
It is not always known what causes the behaviors, but the inability to communicate seems to play a factor in many cases.
There are many things parents can try before resorting to medication, but it requires some investigation to try and figure
out why the behavior is happening, which may take some time. Working with a behavioral specialist can help.
Common Behavior modifications include:
- Increased focus on communication
- Redirection
- positive reinforcment not negative reinforcement. For example when a child is quiet, tell them that is good being
quiet. Don't respond to the screaming which gives them the attention they are looking for.
- punishment. Contrary to most beliefs of what punishment consists of, this may be as simple as making a child endure
an untucked shirt if they like things neat.
- time outs. Keep in mind though that SLOS children can't handle as long a time as most children can.
- reward systems
- pressure, such as bear hugs or pressure on shoulders
Medications used:
Resperdal (controls screaming)
Prozac
Ritalin
Celexa
Adderall XR (also for ADHD)
Vistaril (aka Atarax or Hydroxazine - calming med, also for sleep)
Thioridazine
Neurontin
Zyprexa
Tenex (became zombie like)
Zoloft - Caused tremors in some. Helps depression and sleep
Paxil (caused violence in some)
Halaperadol (Not a good choice; causes eye problems)
Amitriptalyne (antidepressant, but makes young kids not so tense)
Immune Deficiency
Many SLOS kids get colds and are sick quite often. It may or may not be as much as healthy kids, but
SLOS don't seem to be able to handle the colds as well especially if they are g-tube fed or have a hard time
clearing their throats and have a lot of mucous buildup or nasal drainage. In some cases the children have
been diagnosed with Common Variable Immune Deficiency or Selective Antibody Immune Deficiency in which the
children cannot break down certain RBC and polysacharides, and even after vaccinations show no titers; the
treatment for which is IVIG therapy. Some children are home-schooled to help combat this issue. For some
children, when the vomitting or diarrhea becomes severe for several days or if there is a constant fever over
101 degrees, certain doctors recommend using Stress Dose Steroids. A description of which is in the next
section on medications.
The following is an article about IVIG and one of our SLO children
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15877207&query_hl=1&itool=pubmed_docsum
Medications
Obviously from the issues mentioned above, those with SLOS often take many medications for various problems
and surgery. What follows is a list of medications that parents
have tried. Each person is different and not all medications work for all people. As always,
check with your doctor before attempting to use them.
Anesthesia:
Profopol
Thorazine
Versed (sedative for prior to masking)
Emla (topical anesthetic good for blood draws)
Stress Steroids and Fresh Frozen Plasma(FFP):
There is a difference of opinion amongst doctors as to which of these should be used, and under what circumstances.
Fresh Frozen Plasma
Also known as FFP, fresh frozen plasma is plasma from the blood and is given by IV usually when
hospitalization occurrs. As with all blood sources, there is a risk of infection. FFP forces the
body to produce Cortisol when it is given.
Stress Steroids
This medcation is used to aid in times of stress to the body; fevers over 101 degrees farenheit, surgery,
broken bones, constant diarrhea or vomiting, etc.
When the body is stressed it produces Cortisol to combat the stress. Cortisol is in part made with cholesterol.
In SLOS cases, there is little cholesterol in the body to use for production of Cortisol while also maintaining
daily growth and development, so the thought is to give stress steroids to give the body immediate relief of the
stress, and avoid the body using up what little cholesterol it has for making Cortisol.
Cortif is the name of the prescription drug used
Calculation for dosing:
50 mg per (meters)squared / 4
(by 4 for 4 times per day;QID)
The (meters)squared, aka surface area, is calculated using
Mosteller's formula as
square root of ((height in cm * weight in kg)/ 3600)
To boost Attention:
Wellbutrin
Catapres
Teething:
Perigoric
Cold Remedies and Allergies:
Sudafed
Benadryll
Motrin
Tylenol with Cold
Dimetapp
Histussin-HC (prescription)
Respigam
chiropractic services - Gonstead technique
Dallergy (Rx - good for mucous; has scoplamine)
Robitussin PE (has Sudafed, Guifenson)
Delysm (for back cough)
Mintex
Pannaz
Singulair
Palgic
Claritin
Tussin-12 (brand name Tannihist)
children's vaporizer with steam medicine
Seizures:
Tegretal
Topamax
Pheno Barbitol
Male Urges:
Premarin
Incontinence:
Ditropan
Herbs:
Valerian
Catnip and Fennel
Antibiotics for ear infections:
Amoxycillin
Augmentin (ES works the best)
Zithromax
Cefzil
Phenergan
Promethazine
Chiropractor - uses Gonstead method
Eczema:
Lactolotion
Protopic
Elidel (has been removed from shelves)
Cetafil
Lotrimin
Crisco Shortening
Udder Balm
Orapred (for allergic rashes)
Feeding Issues
All people with SLOS have eating issues. For some it begins at birth with the absence of a suck and/or swallow reflex
which requires the placement of a g-tube in order for the children to be able to go home. For others the suck/swallow
reflex is there, but is not that strong, in which case feeding is very difficult trying to get the child to take
in as much nutrition as he or she needs. In more mild cases the child may nurse fairly well, but does not like the
change to textured food. In all cases, feeding is a struggle especially with reflux in the mix, and generally the
children are small; perhaps not even on the charts. The doctors seem happy if the children gain weight and
follow the curve even if they are not on the chart. What follows here is some general information on feeding and tips
and tricks parents use. A Occupational or Speech Therapist that specializes in feeding disorders can help immensely.
Calorie Intake
As a general rule, SLOS kids require fewer calories than other kids their age.
Add to that, cholesterol is more effective if it goes to the muscle instead of fat.
Therefore most specialists currently recommend keeping the kids close to the 25% for weight to height.
An example for a severe infant, fed by g-tube, with reflux issues, recommended intake
is 85-100 calories/kilo/day with about 120cc/kilo/day of fluid.
To calculate minium calories needed: Take weight in pounds and divide by 2.2 to get kilos
Then multiply by 85 (minimum calories per kilo per day)
to get minimum calories your child needs per day
Keep in mind that all children are different and it is imperative to consult with the specialist.
Oral Feeding Suggestions:
There are two aspects to oral feeding; one is trying to get g-tube fed kids to eat
orally, and the other is to get oral fed kids to actually eat enough to sustain
themselves and grow. In the latter, getting enough calories into the kids who
typically don't want to eat anything is tricky, so finding ways to add calories
to foods sometimes without changing the taste is a must. One of the most common
things that is done is to try and add egg yolks to foods. Recipes can also be found
on this web site.
Foods to try for calories:
Yo Baby yogurt
http://www.stonyfield.com
Yoplait Custard Style Yogurts
Beechnut First Advantage
Is higher in cholesterol and made with dried egg.
phone: (800) BEECHNUT
http://www.beechnut.com
They have a coupon and rewards program.
Add butter, cream or sour cream
Use Juice instead of water to mix formula
Add Dark Karo Syrup to drinks or bottles
Cream of wheat mixed with egg
Cream of wheat made with butter, brown sugar and a dash of cinnamon
Rice cereal with fresh goat milk
Goat milk will digest in 20 minutes instead of the normal two hours
Egg custard (Heinz brand baby food) or instant puddings made with 1/2 cream, 1/2 milk
Poached eggs with bread and butter mashed together
Creamy soups
Eggnog
Gerber white grape juice is high in calories or juice with yogurt
Egg yolk, bannana and apple juice
Pudding with eggs
Pound Cake (has lots of eggs)
Additives:
Kaolectrolyte (Packets of Electrolytes that are mixed with 8oz water)
flaxseed oil (Supposedly flaxseed lowers cholesterol, the oil version increases it)
spirulena powder
Polycose by Ross is a calorie booster
Duocal
phone: (800) 365-7354
http://www.shsna.com/html/duocal.htm
scandial powder is a calorie booster
http://www.scandipharm.com
Carnatine - like a liquid amino acid; by Prescription
Microlipid
50% fat emulsion; 4.5 cals/ml
cinnamon supposedly aids digestive system
Foods to try for flavor:
Strong flavored foods such as salsa and chilli
Add flavored extracts such as cherry or lemon or jello flavoring
Add spices such as cinnamon
Mix in Chocolate sauce
Top meat with Ketchup or Italian Dressing
Pureed chili
Vanilla Rice Milk
Pureed Hotdog, instant mashed potatoes and babyfood veggies
Redi-Whip topping
Non-Milk Substitutions:
ovaltine
Soy milk
CoffeRich non-dairy creamer
Tofutti ice cream substitute
Slimfast made with Soy
Feeding Techniques, tips and tricks:
Oral motor excersizes to waken mouth
Rub inside of mouth with toothbrush or NUK toothbrush, toothettes, etc.
Use vibration or battery operated toothbrush around and in mouth
Stroke tongue to bring it forward; use dum-dum suckers
Rub under chin and middle of top lip to make them swallow
Put fruit pieces in cheese cloth or gauze (softer than feeder)
Ice cube in a cloth to suck on
Let them stick their fingers in salt and lick it off - makes them want more liquid
Let them stick fingers in jello powder and lick it off
Hold water in a straw, put the end of the straw in their mouth and let water trickle in
Use cup with straw and when their mouth is on the straw, squeeze until they learn to suck
Use a mirror so they can watch themselves
Distract them with TV, music, etc.
Spoon liquids into the mouth - can add extracts to the water
Try to use rhythm from jar to mouth
Roll foods into balls to help them coordinate the tongue
Use cohesive foods (look same after chewed) so that spitting them out isn't different
Add crackers, cookies, pretzels to pudding or yogurt (they get soft)
Hook up the pump behind the chair while oral feeding so the full feeling becomes associated with eating
Feeding apparatus
Haberman feeder (very good for cleft palates)
Gerber Nuk nipples and bottles
Avent variable flow nipples and bottles, and soft spout cups
http://www.aventamerica.com
Parent's Choice nipples and bottles (WalMart brand)
Baby Safe Feeder at various stores and 800/589-8895
Feeding Therapy items at http://www.new-vis.com
For those that are g-tube fed, the right formula can make all the difference in reflux and weight gain. Here is a list of formulas that
families have used, with Neocate being one of the most popular.
Neocate or Neocate +1
hypoallergenic formulas that are soy based
by SHS North America
800/365-7354
available with prescription
Elecare
Enfamil
Next Step Toddler Soy
Lipil 800/LIPIL-26
Carnation Follow Up
Pediasure or Pediasure with Fiber
Compleat Pediatric by Novartis
Peptamin Jr.
Lacto Free
Nutren 1.5 or Nutren 2.0
Two Cal HN
Infantini (in the UK by Nutricia)
Portagen (soy based)
Progestimil (broken down; ie. pre-digested)
Isomil (soy based)
Alumentin
Vitamins:
Poly vi Sol with Iron
Vitamite (has milk derivative in it)
http://www.iinet.net.au/~scarffam/gtube/formula.doc
http://www.kidswithtubes.org
Studies
There are many studies that are active with SLOS patients or are looking for patients. The majority of the studies
that involve our children are based on proving the benefits of using synthetic cholesterol. There are also studies that use
simvastatins which are being conducted with children that have more mild symptoms of the syndrome. SLOS patients can
participate in as many studies as they like, all it takes is time. Although all studies will help all of our kids in
the end result, it is probably best to do research to find which study best suites your needs (such as travel distance).
Simvastatins:
Medications in this category are on trial in several places including Oregon (OHSU) and in Maryland (KKI).
Although these meds are more commonally used to lower cholesterol, it seems
that in some doses, it lowers the 7DHC levels while helping to increase sterol cholesterol. It also
appears to cross the blood/brain barrier. However, these trials are only being done on the mildest of
cases due to the potential worsening of affects in the severe cases and therefore
this treatment is not recommeded for those children with severe levels of cholesterol.
The liver and kidneys are watched closely and spinal taps are done regularly.
Zocor or Lomastatin are some drugs used.
Hearing and Communication
One of the common symptoms of SLOS is delayed speech and a difficulty in communicating in general. Hearing loss
has also been determined in some of the SLOS children which leads to even further communication issues. There
are several tests that can be done to determine if there is hearing loss. The most typical test is the studio
test where kids are asked to respond to the sounds they hear. With SLOS kids, this is not always an accurate
measurement. There is also the BAER (Brainstem Auditory Evoked Response) or ABR (Auditory Brainstem Response)
which is done under sedation and measures the brainwaves when sounds are played in the ears. In
addition there is an OAE (Otoacustic Emmission) test. These are much more accurate tests.
If both the BAER and OAE show same results (fail) the child has a BAER/ABR, this would give indication that the child has
auditory neuropathy in which essentially the ears work correctly, but the brain has problems
processing the information. http://auditoryneuropathy.tripod.com/ANindex.html
Apraxia is also quite common in children with SLOS. They know what they want (or want to say),
but can't communicate it, and thus makes them frustrated. In cases where the child knows both sign
language and speech, they can switch between the two methods and are often less frustrated.
It is often recommended that SLOS kids use several methods of communication to give them a "total
communication" package. Sign language is highly recommended even though the kids often do not have
the complete ability to correctly produce the signs. Those that work with the children should be
shown how the child makes the sign. In addition, picture systems (PECS), speaking sytems/switches, and speech therapy
all help the child to learn to speak.
Most SLOS parents will recommend that you request sign language in school, and perhaps go so far as to
ask for a signing itinerant. Many schools now introduce sign to all children at a young age, so it
may not be as big a leap as thought.
Some systems that SLOS kids use are:
Cochlear implants
FM system - you wear a microphone and the child would have an earplug. Your voice goes directly into the child's ear.
PECS - Picture Exchange Communication System
Voice Output devices
Sign Language Choices include:
American Sign Language (ASL - signs for basic words, but word order is different than speech)
Signing Exact English (SEE - signs for every word, prefix and suffix in the order spoken)
Pigeon Sign (PSL - This is really ASL words, but in spoken order like SEE and is probably the most helpful for SLOS)
Cued Speech (series of signs to represent sounds)
http://www.cfv.org.com
Communication tasks to work towards are:
get the attention of another person
engage another person in an exchange
understanding that the performance of a behavior(handing a picture, etc.) will result in a desired action
Communication systems and techniques:
Picture Exchange Communcation System (PECS)
http://www.mayer-johnson.com
800/588-4548
GoTalk
Attainment Co, Inc.
800/327-4269
Cheap Talk
Four Square Talker
MessageMate 20
Makaton
Kumon learning
E-Stem Program
Conceptually Accurate Sign Language (CASE)
Dynovox or Chat Box (boxes that will talk for you)
Speech Therapy Equipment
http://www.speechdynamics.com
Body Aide - hearing aid and microphone in a pager size box
Box is clipped to child and tube are bed up through clothes to ears
Insurance resources
TERFA
This is known as different programs in different states.
Typically you'll also qualify for HIPP which pays the
insurance premium.
Katie Beckett Option (NH and others)
Keileigh Mulligan (in MA)
SSI Keystone Mercy HMO (in PA)
Disability Resources (TX)
Association for Retarded Citizens (ARC, in OH)
Education Law Center (Philedelphia, PA)
DOORS (Respite Care)
Shriner's Hospitals
Mental Health and Mental Retardation (MHMR)
Bureau for Children with Medical Handicaps (BCMH) 800/755-GROW
Medicaid (generally income based)
http://cms.hhs.gov/medicaid/default.asp
MassHealth/CommonHealth including HIPP program (in MA)
If your child qualifies for Medicaid, check for WIC and SSI
(both are income related)
ACCESS (in PA; for disabled)
Regional Center (in California; for any disabled person)
Medi-cal (in California)
Children's Medical Service (CMS; in FL)
HBWaiver (in KY; income based)
KCHIP (in KY; income based)
Assistance for Children with Severe Disabilities (in Canada)
Some states have a program to help with modifications needed
to your home. CLASS may be one of them.
Schooling and IEP help
Know the key words "Least Restrictive Environment"
IDEA laws http://www.ideapractices.org
Mass. DOE http://www.doe.mass.edu/sped/
Many of those with SLOS exhibit autistic tendancies. Have this documented in relation to your child before your IEP meeting
as it may get more or better services.
In some states, the following terminology is used:
TMI Trainable mentally impaired
EMI educatable mentally impaired
SMI severely mentally impaired
SXI severaly mentally impaired with multiple impairments exam deaf and blind
Medical Equipment and Therapies
For SLOS children that cannot eat, a g-tube is a necessity. What most parents don't know to begin with is that there are different kinds of g-tubes
and different kinds of feeding pumps. Ask the surgeon to go over the different kinds before a decision is made.
Gastronomy Tubes:
MIC-KEY button (balloon system; a more commonly used brand)
BARD
Microvasive by Boston Scientific
PEG
Freka (in the UK)
Kendall/Tyco
Entristar (anchoring system)
Neutriport (balloon system)
Ross
mini-button (cross between Bard and Mic-key)
Protection:
No need to protect g-tube sites unless fear of infection
Tegaderm semi-permeeable adhesive film dressing
Biggest 3M waterproof bandages
Feeding Pumps:
Kangaroo PET
Ross Patrol
Zevex Enteralite
Zevex Enteralite Infinity - newer and is waterproof; allows daily totals
Medical Beds:
Monroe bed or Medical Safety Bed
Sleep Safe Bed
Sleep Safe Beds, LLC
3135 Dillons Mill Road
Callaway, VA 24067
Phone: 866.852.2337
http://www.sleepsafebed.com
Wheelchairs, Chairs, Strollers and Standers:
Kid-Cart
McClaren Strollers
pushchair
http://store.yahoo.com/bergeron/tumformobflo.html
Rifton Mobile Stander
Leckey Free Stander
http://www.leckey.com
Mullholland Chair
Zippie by Quickie Wheelchair
Orbit wheelchair by Invacare
http://www.invacare.com
Orthotics:
Cascade Dynamic Ankle Foot Orthotics (DAFO)
Sure Step Orthotics
Walkers:
Pacer Gait Trainer Walker
Kaye Posture Control Walker
Gunnel Ring Walker
EZ-Step Toddler walking vest
Homemade version of vest:
take a typical child’s harness and remove the “leash” part
Cut it into three pieces, two of which are sewn to the harness
shoulders for handles. the third goes up between her legs for additional support.
Oral Motor Equipment and Therapies:
Sonicare toothbrush
Surround toothbrush
http://www.specializedcare.com
oral syringes availble by Baxa Corp.
303/690-4204
Check with your local pharmacy for free bags of syringes (come in 100 count bags)
Kinetic Kids Jiggler by Abilitations
Miscellaneous equipment and therapies:
Hydrotherapy (water)
YMCA - they have scholarships
Easter Seals has programs too
Hippotherapy (equestrian/horses)
MEDEK therapy
Joe Cool Thumb Splints
800/223-3556
Motor Therapy equipment
http://www.abilitations.com
Phone: (800) 850-8602
http://www.theraproducts.com
"Different Roads to Learning" - toys for tactile stimulation
http://www.specialkidzone.com
http://www.elitecarseats.com
Sensitivity Issues:
Stimulation Toys
http://www.pfot.com
http://www.southpawenterprises.com
koosh ball
Wilbarger Brushing technique
Diapers:
ActivStyle Medical Supply
http://www.activestyle.com
Easter Seals provides them through Incontinent Supplies
Clothing
Hane's soft fit shoes for use with DAFOs
Fisher Price shoes (wider than most, available at WalMart)
Stride Rite shoes
Hane's Barely There bras
Diaper source
http://www.woodburyproducts.com
800/777-1111
Sun protection clothing
http://www.solumbra.com
Flap Happy Hat at http://www.ebabystyle.com
http://www.onestepahead.com
http://www.sun-togs.com
Pregnancy Information
SLOS is caused by receiving two mutated genes that are related to cholesterol synthesis; one from each parent.
Each parent of an SLO child is a carrier and thus has one good gene and one mutated gene, and therefore
there is a 25% chance of having a child with SLO based on the following combinations:
1. mother's good gene and father's good gene (unaffected child)
2. mother's good gene and father's mutated gene (unaffected child, but a carrier)
3. mother's mutated gene and father's good gene (unaffected child, but a carrier)
4. mother's mutated gene and father's mutated gene (child has SLO)
That, of course, means that there is a 75% chance of having a non-affected child. The non-affected child
however may be a carrier.
Post conception testing includes Chorionic Villus Sampling (CVS) and
Amniocentisis. In each of these tests, it is the cholesterol levels that are
checked (sterol cholesterol and 7-DHC) to determine if the fetus has SLOS. Both
tests can be done as early as 9-10 weeks, but should be done with a very
reputable source.
A urine test has also been devised, but it's accuracy is still being investigated, and it cannot
determine if the fetus is a carrier.
Pre-conception testing can be done two ways. The first way
is to take the female's eggs and test the polar body of the egg. If the polar
body is determined to have the mutated gene causing SLOS, then the egg itself
does not have those mutated genes. This, of course does not guarantee that the
child would not be a carrier.
The second way is to test by way of In-Vitro Fertilization and Pre-implantation Genetic Diagnosis (PGD).
The basic procedure for this is to create embryos from
the female's eggs and the male's sperm and then take a piece of the embryo for testing once the embryo
reaches the 8 cell stage. Before the IVF cycle is started, the testing lab must create a test specific to
the couple's DNA. It is important to note
that the testing should be done by a lab that deals in molecular biology,
and that knowing the gene mutations carried by the parents is best for accurate testing. Cost
and insurance coverage varies by state for IVF and typically the specific genetic test for
SLO is not covered.
Some families have looked into the avenue of PGD and have forwarded this
information:
Dr. Mark Hughes is a leading researcher in the field of PGD and is the best contact for this procedure.
He works out of Wayne University in Detroit, Michigan. Be advised that the timeframes that are quoted are
typically grossly misunderstated (8-12 months instead of 6 weeks).
Reproductive Genetics Intitute
Chicago, IL
773/296-7095 Christina Masciangelo was last known contact
Other concerns that have come up in pregnancies are low estriol levels, low progesterone levels, and slow growth of
the fetus. In many cases, the head, upper arms and upper legs are smaller than other measurements.
It has been determined that doctors can now use the triple screen or AFP test as a red flag for potential SLOS.
As well, the doctors now feel (although not proven), that cholesterol will transfer from mom to baby via placenta for the first and
second trimester, the most critical time of development. Breast milk cholesterol seems to pass through the blood brain barrier.
Books and Learning Websites
Thinking In Pictures by Temple Grandin
After the Tears by ?
Sign With Your Baby at http://www.sign2me.com
Signing Illustrated by Mickey-Flodin
Caring for Young Children, Signing for DayCare Providers and Sitters by S. Harold Collins
Baby's First Words by ?
Baby signs for mealtimes by Linda Acredolo
Baby signs for animals by Linda Acredolo
Babys first signs by Kim Votry
My first baby signs by Linda Acredolo
is Grace For The Moment by Max Lucado (Author)
Sometimes Miracles Hide by Bruce Carroll
Choices in Deafness
The Kid-Friendly Food Allergy Cookbook by Leslie Hammond with Lynne Rominger
Fair Winds Press, March 2004
video examples of sign language at http://commtechlab.msu.edu/sites/aslweb/browser.html
Signing video tapes at
http://www.harriscomm.com
http://www.signingtime.com
Computer Software at http://www.babywow.com
Exceptional Parent Magazine at http://www.eparent.com
Movies
Lorenzo's Oil
I am Sam
Tips and Tricks
Synthetic Cholesterol dosing:
The best way to measure out the cholesterol (which is to be kept refrigerated) is to remove the bottle from the cold for
a minium of 15 minutes, no more than 30 minutes.
Turn/flip the bottle 10-20 times to mix the contents - do not shake as it creates air bubbles which can skew the measurement.
Fill enough oral syringes for a week each with the proper dose for 1 administration and place these in some sort of container.
Place both the bottle and the syringes back into the refrigerator.
Synthetic Cholesterol administration through g-tube (MIC-KEY variety):
Move the clamp to the bottom of a bolus tube and cut the tube about 1/4 inch longer than the clamp.
Use an oral syringe to administer the cholesterol and follow by warm water.
The syringe tip should fit right into the tubing.
Keeping g-tube area clean and dry:
Cut an always maxipad into squares and in each square, cut a slit to the center and make a circle in the center.
Keeping the protective backing on, turn the square upside down and slide it around the button.
The wicking of the pad keeps the skin dry.
Use UdderBalm or BagBalm to keep the area rash free and protect it from leakage.
Behavior modification:
Take a white board or laminated paper source and mark it with four circles as if it had been divided into 4 squares with
a circle in each.
Each time the child misbehaves, X out one of the circles.
If all four circles get crossed out, the child loses a coveted priveledge.
Medical Alert:
Use a dog/cat tag to put medical information on your child by tying the tag onto the child's shoes.
Traveling with Kangaroo Feeding Pumps:
Kangaroo has a "Pumps on loan" program where you can call and arrange for a pump to be delivered to whereever you are
staying while traveling to a foreign country. Contact your medical supply company.
ADAPTERS DO NOT WORK WITH THE CHARGING BASES! Make sure you have a proper adapter
Guardianship:
It is recommended to obtain guardianship of your child before they turn 18, especially if they cannot care for themselves.
You'll also want to set up a Special Needs Trust to protect your child against losing benefits due to gaining your estate.
Mosquito protection:
pin a Bounce fabric sheet to clothes
fill muslin bags with dried sage and hang them in doors and windows
Common Variable Immune disorder:
Lacking the immune response necessary to fight off bacteria and virus'.
Sun Lotions:
BullFrog suntan lotion
Coppertone Spectra 3 in the mint green bottle
Coppertone WaterBabies