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Cleft Lip or Palate
Because HPE is a midline defect, some infantsare born with a
cleft lip and/or cleft palate.Surgical repair of the lip and/or
palate maybe considered, particularly to make feedingeasier. It
should be noted, however, thatfeeding problems might not be
eliminated bythe repair of the clefting, and the repairsurgery can
often affect the childs breathing.Repair of a cleft lip &/or
palate is suggested
between 6-12 months of age, to allow thetissue to grow enough to
complete the repair.Consideration should also be given tostability
of airway, risk of infection, etc.
Feeding
Feeding can be a major challenge for manyinfants and children
with HPE. Many showslowness in eating, frequent pauses whileeating,
and rapid loss of interest. Spitting upor vomiting may occur after
feedings, andthere is a risk of aspiration into the lungs.Alternate
feeding methods may be veryhelpful such as tube feedings. For
somechildren, swallowing and chewing can beimproved through an
intensive course ofVitalStim therapy performed by a qualifiedspeech
or feeding therapist.
Gastrostomy Tube (G-Tube)
When oral feeding becomes too difficult, a g-
tube (gastrostomy tube) may be considered.This is a tube placed
through the abdominalwall into the stomach so that liquid
feedingsand medications can be put directly into thestomach. If
gastroesophageal reflux orvomiting is present, another procedure
calleda nissen fundoplication may be performed totighten the inlet
to the stomach. These twosurgeries are typically performed at the
sametime.
Intestinal Gas
Infants and children with HPE commonlyhave problems handling
intestinal gas dueto excessive air swallowing. Frequentburping
during and following feedings canoften relieve this discomfort. A
variety ofmedications can help to decrease the gasand/or promote
stomach emptying.
Elimination
Constipation can be common, especially forthose children with
high muscle tone,spasticity, and for those who do not moveas much
as a typical child. This problemcan often be improved by
medication,altering the diet or by using suppositories.
Fluid Balance Diabetes Insipidus
Many children with HPE have a condition
known as Diabetes Insipidus (DI) which iswhen the kidneys are
unable to conservewater. Symptoms to watch for are: veryheavy
diapers (high urine output) andexcessive thirst. Once diagnosed,
the signsof DI are irritability, water retention anddehydration. In
some children with HPE,DI is able to be managed by strict control
offluid intake. In other children, hormonereplacement therapy is
effective.
Temperature Control
Temperature control can be quite erratic ininfants and children
with HPE. Elevatedtemperatures may occur in the absence ofinfection
or other definable cause. At othertimes, the body temperature may
be sub-normal for no apparent reason. Adjust-ments in the child's
environment may behelpful in keeping the child's temperaturewithin
a normal range.
Common Conditions Secondary to HPE
Most children with
Holoprosencephaly
have many
other challenges,
some related to
the HPE and some
related to the
underlying cause
of their HPE.
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Motor Skills
Virtually all infants and children with HPE
have deficiencies in motor skills. There aresome children with
HPE who are successfulin walking or crawling. Others are able touse
assistive devices (walkers, gait trainers,etc.) to achieve
independent mobility whileothers are wheelchair dependent.
Headcontrol can be difficult for infants andchildren. Reaching and
grabbing are seen insome infants and children. Most childrenwith
HPE who do improve their motor skillsdo so at a slow and quite
delayed pacecompared to typical children. Physical andoccupational
therapies are commonlyrecommended and can bring improvement.
Hypertonicity
Often, children with HPE have increasedmuscle tone to the point
of spasticity.Spasticity is often evident when the child
isstimulated, excited, or in distress. Archingof the back,
thrusting of the legs and flexingof the arms are common in
these
circumstances. When relaxed, they mayappear "floppy" due to
poorly developedcontrol of their muscles.
Microcephaly/Hydrocephaly
The brain of an infant or child with HPE isoften quite small. If
there is no excess ofcerebrospinal fluid around the brain, thehead
is also small (microcephaly). Whenthere is excess cerebrospinal
fluid, the headsize may appear to be normal or enlarged.Head
enlargement can make caring for thechild quite difficult and excess
fluid canresult in pain and discomfort to the child.An operation
may be recommended toshunt the fluid by way of fine tubing fromthe
head to another part of the body, such asthe abdomen, where the
fluid can beabsorbed back into the blood stream.
Seizures
Many children with HPE are susceptible to
seizures. There are various types of seizures,and frequency of
seizures may changeconsiderably over time. Many children withHPE
who are affected by seizures respondwell to anticonvulsant
medications. Thereare many such medications on the market,and the
child's neurologist will determinewhich medication or combination
ofmedications will be best for treating thechild's seizures.
Sleeping ProblemsChildren with HPE frequently havedifficulties
sleeping, falling asleep or stayingasleep. The hypothalamus helps
to set theawake/sleep cycles. Bedtime sedatives havebeen beneficial
for some children, but manyfamilies have an ongoing struggle with
thisproblem. Many children with HPE havesome degree of sleep apnea
as well, eithercentral (caused by the brain) or obstructiveapnea
that may or may not be able to be
controlled.
Breathing Issues
Many children with HPE have issues withbreathing of some
variety. This can rangefrom a mild case of tracheomalasia
(floppywindpipe) that the child might outgrow ashe/she ages, to a
more advanced case ofstridor (noisy breathing), to a severe case
ofbreathing obstruction in the nose or throatrequiring a
tracheostomy (breathing tube).
Smell
It is often said that children with HPE do nothave a sense of
smell. This is perhaps due tothe improper formation of the
olfactorynerves and nasal cavities. This is not alwaysthe case,
however, and many children withHPE are able to enjoy smelling the
roses.
A child with
Holoprosencephalymight have none,
some or many of
these additional
challenges,
or they might
have other issues
not listed here
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Language
Full development of language is not usually
seen in children with HPE; however, thereare children who can
communicate with alimited vocabulary of words and phrasesand/or
body language. Some children withHPE can understand sign language
and usesimple signs to express themselves. Avariety of high and low
tech augmentativecommunication devices can also be effectivefor a
child with HPE to help communicatewith others.
Hearing
Virtually all children with HPE demonstratethat they can hear.
They react to noises,learn to turn their heads to sound, and intime
develop the ability to recognize certainvoices and noises and react
to those soundsin predictable ways. The children with HPEwho are
deaf or hard of hearing usuallyhave additional conditions that
might havecause the hearing loss.
Vision
Unless the eyes are involved in themalformation, children with
HPE usuallydemonstrate the ability to see. They canfocus on faces
and objects, develop theability to track moving objects, and
respondto facial expressions. The time at whichthese abilities
appear is often delayed fromthe normal schedule of development.
Somechildren with HPE have a condition calledCortical Vision
Impairment (CVI). This iswhere the optic nerves are small
andunderdeveloped, causing less information tobe sent to the brain,
thus causing more of achallenge for the brain to interpret what
isbeing seen. Many children with CVI andHPE make visual progress
with the help ofvision therapy.
Startle Reflex
Many children with HPE show signs of an
overdeveloped startle reflex. They arestartled easily and jump
what might beconsidered a small scare. This is oftenconfused with
infantile spasms and childrencan have a combination of both.
Cognition
Many children with HPE have shownevidence that they can learn
and remember.They can anticipate games that involve
touching or tickling and can recognizefamiliar voices and
sounds. Some childrenhave proven the ability to learn colors
andshapes, and other basic information.This capability is somewhat
determined bythe severity of the HPE and relatedformation of the
brain, but can also beaffected by the amount and intensity ofearly
intervention. Most children with HPEhave shown that they comprehend
speechand can communicate this understandingthru simple facial
expressions, vocalizations
and some speech or movement. Also, manychildren are able to use
simple switchdevices to help communicate, facilitate playand other
interactions.
DisclaimerFamilies for HoPE, Inc. is a nonprofit organization
formed byfamilies of individuals diagnosed with
holoprosencephaly(HPE) and related brain malformations to provide
support,education and otherwise address the needs of families
andindividuals with HPE. Families for HoPE, Inc. does not
provide medical advice or diagnoses. Information andcomments
contained in this paper reflect the personalopinions of the author
and are based upon the author'sexperience and education. The author
is not a doctor and hasno medical expertise in diagnosing or
treating HPE or anyother medical or psychological conditions.
Nothing in thisdocument should be construed as medical advice and
youshould absolutely not make any changes in medical
treatmentwithout consulting your or your child's treating physician
ormental health care professional.
If you think your
child has any ofthese additional
conditions, please
see the appropriate
specialist to help
with diagnosis and
treatment
