DEVELOPMENTAL DISABILITIES

RESEARCH REVIEWS 14: 147 – 157 (2008)

FEEDING AND SWALLOWING DYSFUNCTION

IN GENETIC SYNDROMES
Linda Cooper-Brown,1* Sara Copeland,2,3 Scott Dailey,4 Debora Downey,5,6
Mario Cesar Petersen,7 Cheryl Stimson,2 and Don C. Van Dyke2,8,9,10
1
Division of Pediatric Psychology, The University of Iowa Children’s Hospital, Iowa City, Iowa
2
Division of Medical Genetics, The University of Iowa Children’s Hospital, Iowa City, Iowa
3
Newborn Metabolic Screening Program, The University of Iowa, Iowa City, Iowa
4
Department of Head and Neck and Otorhinolaryngology, The University of Iowa Hospitals and Clinics, Iowa City, Iowa
5
Department of Communication Sciences and Disorders, Wendell Johnson Speech and Hearing Center,
The University of Iowa, Iowa City, Iowa
6
The Center for Disabilities and Development, The University of Iowa, Iowa City, Iowa
7
Child Development and Rehabilitation Center, Oregon Health Science University, Eugene, Oregon
8
Division of Developmental and Behavioral Medicine, The University of Iowa Children’s Hospital, Iowa City, Iowa
9
Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, Iowa
10
Child Health Specialty Clinics, Iowa City, Iowa

Children with genetic syndromes frequently have feeding prob-
lems and swallowing dysfunction as a result of the complex interactions
between anatomical, medical, physiological, and behavioral factors. Feed-
ing problems associated with genetic disorders may also cause feeding to
be unpleasant, negative, or even painful because of choking, coughing,
gagging, fatigue, or emesis, resulting in the child to stop eating and to
develop behaviors that make it difficult, if not impossible, for a parent to
feed their child. In addition, limited experiences with oral intake related
to the medical or physical conditions, or other variables such as prema-
turity, often result in a failure of the child’s oral motor skills to develop
normally. For example, a child with Pierre Robin sequence may be unable
to successfully feed orally, initially, due to micrognathia and glossoptosis.
Oral-motor dysfunction may develop as a result of both anatomical prob-
lems, (e.g., cleft lip/palate), lack of experience (e.g., s/p. surgery), or oral
motor abnormalities (e.g., brain malformation). Neuromotor coordination
impairments such as those associated with Down syndrome (e.g., hypo-
tonia, poor tongue control, and open mouth posture) frequently interfere
with the acquisition of effective oral-motor skills and lead to feeding dif-
ficulties. Management of these phenomena is frequently possible, if an
appropriate feeding plan exist that allows for three primary factors: (1)
feeding program must be safe, (2) feeding program must support opti-
mal growth, and (3) feeding program must be realistic. Researchers have
demonstrated the utility of behavioral approaches in the treatment of
feeding disorders, such as manipulations in the presentation of foods
and drink and consequences for food refusal and acceptance (e.g.,
praise, extinction, contingent access to preferred foods). However,
because a child’s failure to eat is not frequently the result of a single
cause, evaluation and treatment are typically conducted by an interdisci-
plinary team usually consisting of a behavioral psychologist, pediatric gas-
troenterologist, speech pathologist, nutrition, and sometimes other
disciplines. This chapter provides an overview of some of the feeding dif-
ficulties experience by some of the more common genetic disorders
including identification, interventions, and management. ' 2008 Wiley-Liss, Inc.
Dev Disabil Res Rev 2008;14:147–157.
Key Words: feeding dysfunction; swallowing difficulty; genetic syn-
dromes
F
eeding problems are frequent in children with genetics
disorders and definitely complicate daily management
and sometimes behavior. The purpose of this review to
is to provide structure to the identification, intervention, man-
agement, and daily problems that are encountered in the feed-
ing of children who have genetic and developmental problems
(see Table 1). Because a child’s failure to eat is rarely the result
of a single etiology, treatment is typically conducted by an
interdisciplinary team (e.g., behavioral psychologist, pediatric
gastroenterologist, speech pathologist, occupational therapist;
pediatrician, pediatric nurse practitioner, and dietitian), who
evaluate feeding from a number of perspectives, address multi-
ple problems, and integrate contributions made by each
member to the overall evaluation and treatment plan for each
child with feeding problems. Technology such as X-ray, swal-
low studies. MRI, CAT scans, and ultrasound may be most
helpful in defining anatomy and pathophysiology.
PIERRE ROBIN SEQUENCE
Pierre Robin Sequence (PRS) is a common craniofacial
anomaly characterized by micrognathia, glossoptosis, and a U-
shaped cleft palate. PRS may be isolated or as part of a sequelae
of a number of syndromes including Stickler’s Syndrome,
Treacher-Collins, Velo-Cardio-Facial Syndrome, and hemifacial
*Correspondence to: L.C. Brown; Division of Pediatric Psychology, University of
Iowa Children’s Hospital, 140-B, Center for Disabilities and Development, 100
Hawkin’s Drive, Iowa city, IA 52242-1001. E-mail: linda_cooper@uiowa.edu
Received 16 May 2008; Accepted 16 May 2008
Published online in Wiley InterScience (www.interscience.wiley.com).
DOI: 10.1002/ddrr.19

' 2008 Wiley -Liss, Inc.


Table 1. Frequent Feeding Problems in Children
with Genetic Syndromes
Dysfunction
Brain stem dysfunction
Cortical irritable focus
VPI
GER
Craniofacial abnormality
Constipation
Periodontal disease
Reduced saliva production
Large tongue
Small oral cavity
Narrow, short palate
Severe bruxism
Oral hypotonia
Abnormal tongue Movement
Uncoordinated suck emesis
and swallowing
microsomia [Evans et al., 2006; Smith
and Senders, 2006]. Incidence of PRS is
reported at 1 in 2,000 births [Arvedson
and Brodsky, 2002]. With micrognathia
(small jaw) or retrognathia, the chin is
posteriorly displaced causing the tongue
to fall backward toward the posterior
pharyngeal wall (glossoptosis). Glossop-
tosis places the infant at high risk for air-
way obstruction, choking, and aspiration
of liquid [Ortiz et al., 2004]. Primary
medical treatment is concerned with
preventing airway obstruction. In many
cases, prone positioning that allows grav-
ity to maintain a tongue forward position
is successful and in others nasopharyn-
geal tubes are placed to mechanically
open the pharynx [Wagener et al.,
2003]. Studies have reported varying
degrees of success in positional airway
management from 52% [Evans et al.,
2006], 63% [van den Elzen et al., 2001],
68% [Smith and Senders, 2006], 74.5%
[Li et al., 2002]. Nasopharyngeal tubes
have also been used to maintain a pha-
ryngeal airway in some hospitals, 2–8%
[van den Elzen et al., 2001; Li et al.,
2002]. Surgical procedures may include
glossopexy, tracheostomy, lip-tongue ad-
hesion, and mandibular distraction
osteogenesis. [Li et al., 2002; Wagener
et al., 2003; Ortiz et al., 2004; Evans
et al., 2006; Smith and Senders, 2006].
Surgical intervention options may vary
among institutions and surgeons [Evans
et al., 2006]. In addition, the literature
reports a range of need for surgical inter-
vention to improve airway status when
prone positioning has not been successful
(37–44%) [Li et al., 2002; Wagener et al.,
2003; Ortiz et al., 2004; Evans et al.,
2006; Smith and Senders, 2006]. Lip-
tongue adhesion has been reported to be
148
Problems
Dysphagia
Seizures
Nasal pharyngeal reflux
Food refusal; aspiration, poor swallowing
Poor feeding, aspiration
Makes GERD worse
Poor chewing; pain
Dry mouth, poor feeding
Oral food loss; difficulties swallowing
Poor chewing; incomplete chewing of food
Choking
Nasal aspiration; sneezing; choking
Poor feeding
Poor suck; choking
Retention of food; choking poor
swallowing choking; aspiration
successful in 2–27% of patients [van den
Elzen et al., 2001; Li et al., 2002]. Tra-
cheostomies have been required in
3–27% of infants [van den Elzen et al.,
2001; Li et al., 2002; Smith and Senders,
2006]. Mandibular distraction has been
reported successful in 7% [Smith and
Senders, 2006]. Ortiz et al. [2004]
reported on swallowing of infants prior
to and following ontogenesis distraction.
They noted that 66% showed penetra-
tion, 50% had stasis in the pharynx, 28%
had prolonged transit times, and 5.5%
displayed aspiration prior to surgery. Af-
ter distraction all problems were
resolved. In addition, they noted that
prior to surgery that severe apnea (>15
sec) triggered gastro esophageal reflux.
Baujat et al. [2001] report that infants
with PRS also have abnormal esophageal
manometry findings including lower
esophageal sphincter hypertonia, failure
of relaxation of the lower esophageal
sphincter, and esophageal dyskinesia.
Results indicated that all patients showed
improvement in esophageal movement
by 12 months of age. Baujat suggested
that the abnormalities observed are
caused by impaired control of the esoph-
agus.
Feeding Management
Feeding management with infants
with PRS varies from patient to patient.
Initially, feeding may be via nasogastric
tubes as the airway is assessed and
appropriate management is determined.
If there are no neurological or other
structural issues, once the airway is sta-
bilizes many infants feed with minor
adjustments related to cleft palate [Wolf
and Glass, 1992; Singer and Sidoti,
Dev Disabil Res Rev  FEEDING
1992; Arvedson and Brodsky, 2002;
Wagener et al., 2003]. As oral feedings
are introduced, an infant may continue
to require NG feedings until oral feed-
ing is fully established. Infants with
more significant airway difficulties may
need more facilitation and compensa-
tions, and in the most severe cases gas-
trostomy tubes have been required
[Wolf and Glass, 1992; Arvedson and
Brodsky, 2002]. Reports of the use of
feeding tubes (nasogastric and gastros-
tomy) vary for 40–86% [Baujat et al.,
2001; Li et al., 2002; Smith and Send-
ers, 2006]. Evans et al. [2006] reported
42% of patients received gastrostomy
tubes. Some studies combined numbers
of patients requiring NG and those
requiring gastrostomy tubes making
comparisons and summarizing difficult.
Prone feeding and side-lying
feeding have been used in infants who
have required only this position for air-
way stabilization but infants may con-
tinue to have difficulties [Takagi et al.,
1966; Smith and Senders, 2006]. Oral
feeding attempts should be 15–20 min
or even shorter durations due to the
effort and fatigue with feeding. Feeding
facilitating techniques including use of
pacifier, lingual massage to relax and
anteriorize the tongue, soft nipple with
enlarged hole, symmetric positioning,
ensuring nipple placement on the
tongue, and rhythmic movement of the
nipple have been shown to improve
intake volumes and decrease feeding
times compared with the standard treat-
ment of using nipple with enlarged hole
[Nassar et al., 2006]. Palatal obturators
have also been used to assist with feed-
ing [Li et al., 2002]. Nipple choice is
very important in the micrognathia. A
longer nipple is usually more beneficial
to allow placement of the nipple on the
tongue in an appropriate position to
deliver milk to the middle tongue [Wolf
and Glass, 1992]. As facial growth
occurs in a downward and forward
direction, the airway status improves.
Infants who have required tracheostomy
are typically decannulated after adequate
airway growth and posterior cleft palate
repair. When the appropriate develop-
mental levels are reached, these children
become spoon-feeders, self-feeders, and
learn to eat table foods [Arvedson and
Brodsky, 2002].
CLEFT LIP/PALATE
Infants with cleft lip and cleft pal-
ate typically require some modifications
of feeding techniques. Not all infants
and children with cleft lip and/or cleft
AND SWALLOWING DYSFUNCTION  BROWN ET AL.
lip experience significant feeding diffi-
culties [Masarei et al., 2007]. Feeding
problems vary from minimal for an
infant with an isolated cleft lip to major
feeding issues for infants with cleft pal-
ate and multiple other anomalies. Strat-
egies to optimize growth and develop-
ment are vital regardless of the severity
of the feeding difficulties. Infants with
an intact palate create negative intraoral
pressure as their lips and tongue form a
seal around the nipple and the tongue
produces rhythmic sucking motions. An
intact soft palate elevates to seal off the
nasopharynx. Infants with isolated cleft
lip usually feed without much difficulty.
Infants with a cleft palate typically have
significant difficulty developing the neg-
ative pressure needed for nipple feeding
due to the inability to seal the nasal
cavity and nasopharynx from the oral
cavity and oropharynx [Reid et al.,
2007]. Nasopharyngeal regurgitation
may occur during feeding an infant
with a cleft palate.
In addition, infants with cleft pal-
ate usually ingest excess air due to the
lack of separation between the nasal and
oral cavities. This may lead to bloating;
choking, gagging, fatigue with feeding,
prolonged feeding times and contributes
to spitting up and emesis. These diffi-
culties may persist beyond 12 months of
age. An infant with a cleft palate and
neurological impairments or syndromes
may have oral motor difficulties that
further complicate the feeding process.
The nutritional status and growth of all
infants with cleft lip and palate should
be monitored closely.
Breast Feeding Modifications
Feeding breast milk to infants has
multiple benefits including immuno-
logic and infection-protection [Bian-
cuzza, 1998]. Cleft infants fed breast
milk have had less middle ear effusions
than those fed formula [Paradize et al.,
1994]. The children with clefts who
received longer periods of breast feed-
ing have been found to have better
school performance [Erkkila et al.,
2005]. Breast feeding is always an
option for infants with isolated cleft lip
[Garcez and Giugliani, 2005]. Some as-
sistance may be needed initially prior to
full milk production. Different feeding
positions may need to be tried for the
infant to obtain adequate seal on the
breast and for effective expression of
milk. Mothers may use one hand to
provide additional cheek and lip support
to facilitate improved seal [Biancuzza,
1998]. Some infants with small soft pal-
ate clefts or submucous cleft may be
Dev Disabil Res Rev  FEEDING AND
successful breast feedings [Garcez and
Giugliani, 2005]. Other infants and
those with larger palate clefts have the
poorest prognosis for breast feeding due
to the lack of separation between the
oral and nasal cavities and inability to
develop negative intraoral pressure
[Wolf and Glass, 1992; Arvedson and
Brodsky, 2002; Garcez and Giugliani,
2005]. Some infants have been fed with
supplemental nursing systems that allow
the infant to attempt feeding at the
breast and receive pumped breast milk.
Other mothers may pump breast milk
and feed using a bottle. The reported
rate of breast feeding either directly at
the breast or expressed breast milk fed
through a bottle varies from 1 to 67%
at 7 months of age [Garcez and Giu-
gliani, 2005]. Palatal obturators are used
in some centers with varying degrees of
success [Glenny et al., 2004].
Bottle Feeding Modifications
Several different bottles and nipple
have been designed for children born
with clefts. Infants with cleft palate with
or without cleft lip are likely to feed
successfully with a nipple that requires
only compression (Haberman Feeder,
Pigeon Cleft Palate Nurser) or a cross-
cut nipple with a squeezable bottle
(Mead-Johnson Cleft Palate Nurser).
Enlarging nipple holes is done fre-
quently, but should be done with cau-
tion. Milk flow should not be increased
so that it compromises the coordination
of normal swallowing and breathing ac-
tivity [Wolf and Glass, 1992]. Research
on the most effective method of feeding
is inconsistent [Glenny et al., 2004].
Shaw et al. [2004] found that infants
with clefts that had assisted feeding with
squeeze bottles had fewer reported
feeding difficulties than those fed with a
rigid bottle and modified nipples. Posi-
tioning during feeding is also very im-
portant. General guidelines include
holding the infant in a more upright
position to minimize entry of formula/
breast milk into the nasal cavity and eu-
stachian tubes during sucking and swal-
lowing activity [Wolf and Glass, 1992;
Arvedson and Brodsky, 2002]. Infants
should be burped frequently during the
feeding due to the increased ingestion
of air. Palatal obturators also are used in
some centers to assist with bottle feed-
ing [Wolf and Glass, 1992; Glenny
et al., 2004].
Solids
An infant born with cleft lip/pal-
ate should be ready to eat strained foods
at the same age as other infants. Infants
SWALLOWING DYSFUNCTION  BROWN ET AL.
should be seated in a supported position
and offered food from a spoon. Initial
presentations of food may result in
sneezing and greater amounts of nasal
regurgitation but will usually decrease as
the infant learns to manipulate the food
in the mouth more skillfully [Arvedson
and Brodsky, 2002].
Feeding Considerations Following
Lip and Palate Repair
Postoperative feeding techniques
for infants following primary lip repair
and primary palate repair vary consider-
ably based on tradition and surgeon’s
experience and preferences [Cohen
et al., 1992]. Following primary lip
repair recommendations range from im-
mediate nipple feeding to no nipple
feeding for up to 6 weeks. When nipple
feeding is not recommended, cup
drinking or spoon is introduced prior
to the lip repair surgery. Darzi et al.
[1996] found that those infants allowed
to breast feeding following cleft lip
repair had better weight gain following
surgery than those that were spoon fed.
Following primary palate repair it is
common practice for children to do no
sucking or take hard solids to prevent
dehiscence of the suture line(s). Cup
drinking and soft food diet is recom-
mended during the postoperative pe-
riod. Length of time after surgery of
abstinence from sucking or hard solids
is determined by the surgeon with a
maximum time likely to be 5 weeks
[Arvedson and Brodsky, 2002].
Intervention Teams
Cleft Lip/Palate Teams and Cra-
niofacial Teams consist of groups of spe-
cialists who are primarily interested in
the care of children who have clefts and
other craniofacial anomalies. Early feed-
ing assessment and intervention is an
important part of services offered by
these healthcare teams. The American
Cleft Palate and Craniofacial Association
(ACPA) and the Cleft Palate Founda-
tion (CPF) are excellent resources for
parents and healthcare professionals.
VELOCARDIOFACIAL
SYNDROME (DIGEORGE
SYNDROME,
VELOCARDIOFACIAL
SYNDROME, 22q11 DELETION
SYNDROME)
Three clinical disorders, DiGeorge
syndrome, Velocardiofacial syndrome,
and conotruncal anomaly face syn-
drome, have been found to have a com-
mon microdeletion of a section of chro-
mosome 22, called 22q11 deletion.
149
Therefore, these three syndromes have
been called 22q11 syndromes. Incidence
of 22q11 deletion syndrome is 1 in
4,000 to 6,000 births [Goldmuntz,
2005]. Common features of 22q11 de-
letion syndrome include congenital
heart disease, immunodeficiency, hypo-
calcaemia, cleft lip and/or palate, other
palate anomalies (submucous cleft, velo-
pharyngeal incompetence), Pierre Ro-
bin Sequence, speech disorders, otorhi-
nolaryngologic issues, dysmorphic fa-
cies, renal anomalies, skeletal anomalies,
cognitive disabilities, and behavioral and
psychiatric disorders [Cuneo, 2001;
Goldmuntz, 2005; Evans et al., 2006;
Smith and Senders, 2006].
Early feeding disorders are a com-
mon problem for a patient and family
with a 22q11 deletion syndrome. A ma-
jority of patients have feeding difficulties
and failure to thrive. Difficulties include
nasopharyngeal reflux, gagging, and
choking, prolonged feeding and disor-
ganized suck-swallow-breath coordina-
tion, difficulty with advancing textures.
Pharyngeal hypotonia has been found in
many patients and correlates with gener-
alized hypotonia [Eicher et al., 2000;
Cuneo, 2001]. Fatigue with feedings
may also be a factor related to cardiac
anomalies and the hypotonia [Cuneo,
2001]. Feeding difficulties may be exa-
cerbated by anatomical tracheolaryngeal
abnormalities such as laryngeal web or
vascular rings. Eicher et al. [2000] also
identified hyperdynamic middle pharyn-
geal constrictor resulting in increased na-
sopharyngeal regurgitation, and crico-
pharyngeal prominence. Beyond infancy,
many patients have difficulties with
increased volume of feedings and
changes in food textures [Cuneo, 2001;
Eicher et al., 2001]. Many patients are
commonly diagnosed with gastroesopha-
geal reflux (GERD), esophageal dismo-
tility, and constipation, all of which
compound their feeding disorders
[Eicher et al., 2000; Cuneo, 2001]. Gas-
trostomy tubes are needed in some
patients to maintain adequate caloric
intake [Eicher et al., 2000; Goldmuntz,
2005]. Behavioral difficulties including
poor social skills, deficits in attention and
communication may contribute to be-
havioral issues around feeding as the
child develops [Goldmuntz, 2005].
Feeding Management
Management of feeding difficul-
ties in infants with children requires a
multidisciplinary team including feeding
specialists (Speech-Language Patholo-
gists, Occupational Therapists), medical
specialists (Gastroenterologists, Cardiol-
150
Table 2. Feeding Problems in Down syndrome
Cause
Periodontal disease
Reduced saliva Production
large tongue
small oral cavity
narrow, short palate
Severe bruxism
oral hypotonia
abnormal tongue movement
uncoordinated suck and swallowing
Ref: Van Dyke et al., 1990; Sterling et al., 1992.
ogists, Genetics, Pediatrics, Endocrinol-
ogists, Psychologists, and Nutritionists)
are crucial. With the consistency of dif-
ficulties observed across individuals with
22q11 deletion in the absence of palatal
and cardiac defects, a referral for an
early feeding evaluation is advocated by
many [Eicher et al., 2000]. Management
is based on those factors identifies as
affecting the feeding. If hypotonia is
identified, facilitating techniques includ-
ing chin and cheek support during bot-
tle feeding, supported positioning, and
shorter feeding times are generally
attempted. For presence of cleft palate
or velopharyngeal difficulties, adaptive
nipples and upright positioning dis-
cussed in the Cleft Palate section may
be appropriate. For those patients with
cardiac anomalies, shorter oral feeding
sessions with optimized caloric density
of the formula/food should be consid-
ered within the entire medical status
and needs of the child. If the toddler or
older child displays behavioral difficul-
ties with mealtimes and intake, behav-
ioral interventions may be beneficial to
improve mealtime behaviors and oral
intake.
DOWN SYNDROME
Anatomical Differences
Many individuals with Down syn-
drome have oral, anatomical, and struc-
tural differences that predispose them to
potential feeding problems [Van Dyke
et al., 1990; Sterling et al., 1992].
Coupled with oral motor problems and
frequent dental anomalies, the result is,
though usually minor, an increase in
feeding problems [Van Dyke et al.,
1990; Sterling et al., 1992]. Frequent
oral and dental differences that poten-
tially predispose and maybe frequently
associated with feeding problems are
seen in (Table 2).
Dev Disabil Res Rev
Result Feeding problem
Tooth loss Poor chewing; pain
Dry mouth Poor feeding
Oral food loss Difficulties swallowing
Poor chewing Incomplete chewing of food choking
Nasal aspiration Pain; sneezing, choking
Dental damage Pain; poor feeding
Poor suck Choking, poor feeding
Pocketing of food Retention of food; choking
Poor swallowing Choking; aspiration; emesis
Role of Comorbidities and Feeding
Chronic illnesses such as congeni-
tal heart disease, esophageal, stomach,
and bowel dysmotility, and anatomical
abnormities requiring surgical interven-
tions are common problems leading to
poor feeding and poor growth in Down
syndrome individuals [Cronk et al.,
1981; Baer et al., 1990]. Congenital
heart disease is a frequent co-morbidity
in Down syndrome (50%). Poor feed-
ing, tiring with feeding, poor growth
are all signs of moderate to severe con-
genital heart disease [Cronk et al.,
1981]. The development of poor feed-
ing in a previously good feeder in a
child with Down syndrome with know
heart disease should be suspect for con-
gestive heart failure until proven other-
wise.
Obesity
Obesity is a major concern in the
older child, adolescent, and adult with
Down syndrome [Pipes and Holm,
1980; Baer et al., 1990]. Obesity can
result in early degenerative joint disease,
reduced activity levels, and the develop-
ment of cardiopulmonary disease. We
have seen one case in an obese adoles-
cent female who developed OSA lead-
ing to pulmonary hypertension, and
finally to congestive heart failure requir-
ing an admission to a PICU.
A retrospective study by Pipes and
Holm [1980] showed that problem areas
leading to obesity in Down syndrome
were:
 Inappropriate intake of nutrient and
calorie
 Retention and acceptance of poor
eating habits
 Inappropriate feeding practice by
parents.
However, the overall situation
may not be that simple and possibly
 FEEDING AND SWALLOWING DYSFUNCTION  BROWN ET AL.
 Table 3. Examples of Metabolic Diseases with Feeding Deficiency
Neurological
Category of Restrictive Frequent/regular and swallowing Anatomical
Metabolic Disease Metabolic disorder diet meals required problems obstruction Anorexia

Methylmalonic aciduria Intoxication Yes Yesa Yesb No Yes

Propionic Acidemia Intoxication Yes Yesa Yesb No Yes
Ornithine Transcarbamylase deficiency Intoxication Yes Yesa Yesb No No
Citrullinemia Intoxication Yes Yesa Yesb No No
Argininosuccinic aciduria Intoxication Yes Yesa Yesb No No
Mitochondrial defect Energy deficiency No Yesc Yes Yesd No
Long chain acyl-coA dehydrogenase deficiency Energy deficiency Yes Yesc Yesb No No
Glycogen storage disease Energy deficiency Yes Yesc No No No
Tay Sachs Lysosomal storage disorder No No Yes No No
MPS I and II Lysosomal storage disorder No No Yes Yes No
Gaucher disease Lysosomal storage disorder No No No Yes No
Mucolipidosis II or III Lysosomal storage disorder No No Yes Yes No

a
To avoid catabolism and worsening of symptoms
b
To avoid hypoglycemia
c
secondary to metabolic decompensation and stroke
d
Uncoordinated autonomic function, dysfunctional esophageal motility

involve differences in fat metabolism
and storage at the cellular level. Man-
agement of obesity should be a top pri-
ority in adolescents and young adults
with Down syndrome and include early
nutritional education, weight monitor-
ing, direct adult supervision with severe
food restriction, and exercise.
Oral Motor Dysfunction
Studies of oral feeding in individ-
uals with Down syndrome, particularly
young children, have shown a frequency
of feeding problems ranging from
50–80% [Pipes and Holm, 1980; Van
Dyke et al., 1990]. Detailed feeding
assessments have shown both delays and
aberrant oral-motor function with
abnormal-tongue/jaw function and dif-
ficulty initiating and maintaining the
feeding sequence [Van Dyke et al.,
1990; Spencer et al., 1996]. Commonly
reported feeding concerns of parents
were poor suck and lip closure, difficul-
ties chewing, and uncoordinated swal-
low leading to choking and gagging
[Van Dyke et al., 1990]. As a general
rule, unless compromised by a severe
co-morbidity, i.e., severe congenital
heart problems, feeding problems were
minimal with most Down syndrome
children being totally independent
feeders by early childhood [Van Dyke
et al., 1990].
Swallowing and Aspiration
Radiographic (videofloroscopy)
studies in some individuals with Down
syndrome have shown abnormalities in
both the oral and pharyngeal phases of
swallow. If aspiration did occur it was
usually silent [Frazier and Friedman
1996]. However, this does not mean
Dev Disabil Res Rev  FEEDING
that these individuals were to develop
pneumonia. Those with a good cough
and mechanisms of clearing their airway
rarely developed pneumonia. However
in the individual with repeated episodes
of pneumonia, aspiration with poor
clearing needed to be a serious consid-
eration.
Facial Reconstructive Surgery
Facial reconstructive surgery has
been advocated for children with Down
syndrome particularly in some countries
outside the United States as far back as
the early 1980s [Parens, 2006]. The use
of facial reconstructive surgery in chil-
dren with Down syndrome, however,
continues to be rare and at best con-
troversial [Parens, 2006; http://www.
wikipedia.org]. Tongue reduction sur-
gery for improving articulation has been
one form of facial reconstructive surgery
advocated [Parsons et al., 1987; Stoel-
Gammon, 2001]. However, studies of
articulation in individuals with and with
out surgery have shown no significant
differences between the two groups
[Parsons et al., 1987; Stoel-Gammon,
2001]. Facial reconstructive surgery in
individuals with Down syndrome re-
mains an area of discussion and contro-
versy.
WILLIAMS SYNDROME
Williams syndrome (WS) or
Williams-Beuren syndrome (WBS) is a
rare disorder occurring in 1 in 20,000
to 50,000 live births [Sugayaman et al.,
2007]. It is characterized by distinctive
facial features and a neurodevelopmental
profile that involves four areas: cognitive
development, language, auditory func-
tion, and visual-spatial skills. Children
AND SWALLOWING DYSFUNCTION  BROWN ET AL.
with Williams syndrome typically have
mild to moderate mental retardation.
They often have strengths in language
and verbal short-term memory, and
weaknesses in visual-spatial construc-
tion. Children with Williams syndrome
are often described as overly friendly,
hyperactive, inattentive, hypersensitive
to loud sounds or certain types of
noises, and overly anxious.
Children with Williams syndrome
require the care of multiple health care
professionals due to multisystem
involvement. Initial care may center on
failure to thrive, hypercalcemia, or
repair of cardiac lesion. Hypercalcemia
is frequently asymptomatic but can pres-
ent with decreased feeding, irritability,
and severe colic in infancy that can lead
to poor weight gain. Feeding problems
can be secondary to cardiac defects, but
are usually related to behavior issues.
INBORN ERRORS OF
METABOLISM AND FEEDING
DISORDERS
Inborn errors of metabolism can
cause feeding problems. A summary of
metabolic errors with feeding problems
is seen in Table 3. Unlike most other
genetic disorders, the feeding problems
inherent to metabolic defects are in
general not due to structural anomalies.
The feeding problems are often second-
ary to neurological sequelae of the dis-
ease, or inherent to the metabolic needs
of the patients. Over 300 human dis-
eases due to inborn errors of metabo-
lism are now recognized, thus the
potential burden to families and practi-
tioners is significant. Many of the disor-
ders have complicated and restrictive
diets. Some patients may rely on meta-
151
bolic formulas for the majority of their
nutrition. As with most medical care,
adherence can be a problem. As chil-
dren get older and have more
autonomy, dietary restriction becomes
more difficult and metabolic control
becomes tenuous.
Inborn Errors of Intermediary
Metabolism That Lead to Acute or
Progressive Intoxication
This class of metabolic defects
causes upstream buildup of metabolites
that are toxic to the cells and overall or-
ganism functioning. Two major groups
of metabolic defects that are included in
this category are urea cycle defects and
organic acidurias. Both of these types of
disorders are caused by defects in pro-
tein metabolism and are exacerbated by
catabolism and illness.
Patients with intoxication disor-
ders have inherent problems with meet-
ing their nutritional requirements. They
tend to be anorectic, so oral feeding is
problematic. Even when tube feeding is
used, the special caloric needs can lead
to poor nutritional status with growth
retardation, osteoporosis, chronic ane-
mia, and hypotonia. Baseline neurologi-
cal outcome tends to be impaired by
both acute and chronic basal ganglia
involvement [de Baulny, et al. 2005].
One of the organic acidurias in
particular is notorious for problems
with feeding. Patients with neonatal
onset propionic acidemia, a disorder of
branched-chain metabolism, have pro-
gressive failure to thrive in the first
years of life if they must rely on oral
feedings. In a cohort study of propionic
acidemia patients, all children had
increasing anorexia with frequent vom-
iting, and parents had greater difficulty
maintaining metabolic stability at home
and meeting caloric requirements dur-
ing intercurrent infection. When gas-
trostomy tube feedings were imple-
mented, parents reported that home
care was easier and less stressful to the
family [North, 1995].
When patients are ill and ence-
phalopathic they are at greatest need for
increased caloric intake. Decompensa-
tion can be caused by catabolic stress,
such as vomiting, diarrhea, febrile ill-
ness, and decreased oral intake. The
treatment is to increase caloric intake,
and eliminate toxic amino acids and
other precursors [Seashore, 2006].
Strokes in organic acidurias and
urea cycle defects are common after
metabolic decompensation. They often
affect the caudate and putamen with
resulting oromotor dysfunction [Keegan
152
et al., 2003]. If they have had a previous
metabolic decompensation, their ability
to eat may be impaired.
‘‘Energy Deficiency’’ Disorders of
Energy Production or Utilization
Common symptoms of these
patients include hypoglycemia, hyper-
lactacidemia, severe generalized hypoto-
nia, myopathy, cardiomyopathy and fail-
ure to thrive. The organ systems most
affected by energy deficits are those that
rely on muscle cell function. These
problems are most evident in heart,
smooth muscle in GI tract, swallowing
coordination and brain functioning.
Mitochondria are essential for aer-
obic energy production. With defects in
this pathway, the cells do not have
enough ATP to perform their normal
functions. Patients with disorders of mi-
tochondrial metabolism in turn have
feeding problems related to their energy
deficits. Feeding disorders in patients
with mitochondrial disease can occur
anywhere in the process of nutrient
intake. Disorganized and slow swallow-
ing, gastroesophageal reflux, dysmotility
with delayed gastric emptying, intestinal
pseudo-obstruction, diarrhea and pan-
creatic exocrine insufficiency are some
of the common concerns.
Disorders of glycogen storage also
have energy deficits, prior to the pro-
duction of ATP. Normal metabolism
during times of fasting uses glucose
available in the blood, and then pro-
ceeds to using simple sugars stored as
glycogen in the liver. If the liver is
unable to break down glycogen to glu-
cose, the patient develops low blood
sugars, which can lead to cardiovascular
collapse from energy deficiency. Patients
with glycogen storage diseases, require
frequent meals around the clock. This
can be problematic during ‘‘normal’’
fasting times, especially overnight. Thus,
many patients require continuous night-
time feedings via NG tube or gastros-
tomy tube. However, this requirement
usually resolves by after the first year of
life, due to ability to use cornstarch for
sustained glucose release [Lund and
Leonard, 2001].
Lysosomal Storage Defects
Lysosomal storage defects are
caused by abnormal build-up of com-
plex molecules in the lysosomes of the
cells. This causes engorgement of the
cells and dysfunction of the cells by in-
hibiting normal cell mechanisms. Lyso-
somal storage diseases have symptoms in
every organ system, including the gas-
trointestinal tract. Lysosomal storage can
Dev Disabil Res Rev  FEEDING AND
cause feeding disorders in two ways.
First, they can have central nervous sys-
tem (CNS) involvement with disorgan-
ized swallowing and aspiration risk.
This in turn can make a feeding tube
necessary.
Another complication from stor-
age disease is the overgrowth of the
liver and/or spleen. The organ enlarge-
ment in turn compresses on hollow
organs in competing for space. By com-
pressing the stomach and intestines,
there is a premature satiety and
decreased appetite, as well as risk for
obstruction [Yeh et al., 2003].
FEEDING AND SWALLOWING
ISSUES IN PRADER-WILLI
SYNDROME
Another genetic disorder which
often results in problematic feeding and
swallowing issues during infancy is the
condition first described by endocrinol-
ogists Prader, Labhart, and Willi in
1957 and is known today as Prader-
Willi syndrome (PWS) [Denizot et al.,
2004]. Individuals with Prader-Willi
have either a chromosome deletion of
15q11-q13, or maternal disomy 15 or
uniparental disomy, or in a small num-
ber a small atypical deletion of the
imprinting center. Signs of PWS may
be seen at birth and the condition is
characterized by diminished fetal activ-
ity, profound poor muscle tone, feeding
problems in infancy, underdeveloped
sex organs, short stature, small hands
and feet, delayed developmental mile-
stones, characteristic faces, cognitive
impairment, onset of gross obesity in
early childhood due to insatiable hunger
[Gunay-Aygun et al., 2001]. PWS is
viewed as having two identifiable
phases. Phase I of the syndrome
includes, the prenatal, neonatal, and
early infancy period. During phase I of
the syndrome children often experience
diminished fetal activity, poor muscle
tone, and failure to thrive. The onset of
phase II typically occurs between 2 and
3 years of age. During this phase
uncontrollable hunger surfaces and chil-
dren often demonstrate food seeking
behaviors. It is ironic that early on these
children present with significant feed-
ing problems and instances of poor
weight gain only to later develop obe-
sity with an insatiable desire to eat. It is
the feeding problems associated with
phase I of this disorder that is directly
related to the infants poor muscle tone
or hypotonia.
Management of feeding issues in
PWS is effective when a clear under-
standing of the reason behind the feed-
SWALLOWING DYSFUNCTION  BROWN ET AL.
ing difficulty exists. For infants with
PWS the cause of their feeding and
swallowing problems is their underlying
hypotonia resulting in a poor suck.
[Morgan and Rolles, 1984; Gunay-
Aygun et al., 2001; Denizot et al.,
2004]. Management of this phenomena
is possible, if an appropriate feeding
plan exist that allows for three primary
factors:
(a) The feeding program must be safe.
(b) The feeding program must support
optimal growth.
(c) The feeding program must be realis-
tic [Wolf and Glass, 1992].
The PWD infant ‘‘poor sucking
behavior’’ is twofold. First, the PWS
infant often experiences difficulty latch-
ing on to a nipple due to the oral cavity
being marked with excessive low mus-
cular tone. The consequence is an
inability to obtain a seal around the nip-
ple causing poor intra-oral pressure
which contributes to the infant’s inabil-
ity to successfully draw the liquid from
the nipple. The second parameter con-
tributing to the infant’s poor suck is the
underlying tone of the tongue muscle
itself. Poor tone in the tongue can con-
tribute to an inability to draw the liquid
from the nipple as well. In adequate
movement or poor tongue skills do not
allow for the needed compression of
the nipple necessary to draw the liquid
from the bottle. The result is a fatigued
and frustrated infant and parent exposed
to extended feeding periods with lim-
ited caloric intake. Often, in an attempt
to overcome these two obstacles care-
givers are instructed to cut a hole in the
nipple of the bottle to allow for ‘‘easier’’
flow of the liquid with the idea being
that the infant has to work less. A com-
mon occurrence is that the liquid flow
is too fast and reaches the pharyngeal
recesses prematurely resulting in aspira-
tion or penetration of the liquid, either
of which is judged to be a negative ex-
perience by the infant. Thus, the PWS
infant’s inability to safely manage the
‘‘easier’’ flow nipple and is often met
with disinterest and/or avoidance
behavior.
There are several techniques that
will support the PWS infant’s ability to
they include the use of a wider base
nipple to assist the infant in obtaining a
seal around the nipple to allow for the
build-up of intra oral pressure. Com-
mercially available bottles such as the
Avent bottle system are suggested.
However, if a seal cannot be managed
then the need for direct external sup-
port to the cheek or suck pads is sug-
Dev Disabil Res Rev  FEEDING AND
gested. This can be accomplished by
placing the thumb and index or middle
finger on suck pads while providing lat-
eral pressure to the purse the lips. [Wolf
and Glass, 1992]. If direct external sup-
port is being offer the primary feeder
may find it more manageable if smaller
bottle, such as the Volu-feed available in
most hospitals, is used. Building tone in
the tongue is often the next necessary
step. This can be accomplished by mod-
ifying the head position into a neutral
or slightly flexed position while provid-
ing support to the head and providing
firm pressure to the midline of the
tongue [Wolf and Glass, 1992].
Despite the best efforts some
infants with PWS may require the need
for alternative feedings. This is due to
the infant’s inability to meet the neces-
sary nutritional requirements to sustain
growth through oral feedings alone.
The use of any form of alternative feed-
ing (i.e., nasal gastric tube feedings, gas-
trostomy, or gavage feedings) does not
necessarily imply that the patient is
unable to continue to experience oral
feedings, as long as chronic aspiration is
not a by product of the underlying
hypotonia of the infant, oral feedings
can continue as a supplement or experi-
ence to the alternative feedings. It is
important to note that the majority of
PWS infants continue with some form
of oral feedings. The experience of
continued oral feedings is important as
the infant’s underlying hypotonia will
improve to allow for more optimal
feeding patterns.
RETT SYNDROME
The classic presentation of RS
affects only females, and is characterized
by a normal prenatal and perinatal his-
tory, with normal development during
the first months of life [Rett, 1966;
Hagberg et al., 1983]. Between 6 and
36 months affected females have loss or
decrease of acquired skills in language,
communication, and purposeful use of
hands. The loss of use of hand function
and the development of stereotype
movements of the hands (hand washing,
hand wringing, clapping, patting) is one
of the behavioral phenotypes that is
most characteristic of this syndrome.
Head circumference shows a decelera-
tion of head growth that can be noticed
starting at 3 months of age, sometimes
resulting in microcephaly. Gross motor
skills are also affected, with develop-
ment of ataxic gait or loss of ambula-
tion, usually around 4 years of age.
Diagnostic criteria were defined in
1988 and further refined in 2002 [Hag-
SWALLOWING DYSFUNCTION  BROWN ET AL.
berg et al., 2002]. In 2002, Amir et al.
identified mutations in the X-linked
methyl-CpG-binding protein 2 (MECP2)
as the cause of the RS. [Amir et al.,
1999]. Several studies have shown that
about 80% of the girls with RS have a
MECP2 mutation [Bienvenu et al.,
2000; Huppke et al., 2000; Auranen
et al., 2001; Bourdon et al., 2001; Chae
et al., 2002]. A few boys with congeni-
tal encephalopathy in families with
another girl with RS have been
described with a MECP2 mutation.
Growth retardation is one of the
supportive signs of RS. Some children
with RS can present with severe failure
to thrive during the period of regres-
sion. Motil et al. studied 13 subjects
with feeding problems with less prefer-
ence to hard-to-chew foods such as
meats. They showed that some patients
do have feeding problems such as pro-
longed feeding times (92%), lack of self-
feeding skills (92%), and poor oral
motor control (69%) [Armstrong et al.,
1999]. Most females with RS are com-
pletely dependent for eating (83.7%),
and only a very small number (1.2%)
are independent for eating [Leonard
et al., 2001]. Laryngeal penetration and
aspiration is common in girls with feed-
ing problems. Many had esophageal and
gastric dismotility (69%). All these
abnormalities could explain poor oral
intake, in spite of reported good appe-
tite by parents. However, the reason for
the failure to thrive is not clear, because
girls with short stature do not necessar-
ily have poor feeding. A decrease in
growth is apparent in 85–90% of the
patients, inspite of normal or even
increased appetite [Motil et al., 1994].
Though poor weight gain has often
been reported, some of the studies
reporting poor weight failed to assess
the effect of short stature [Motil et al.,
1994; Reilly and Cass, 2001; Isaacs
et al., 2003]. In a Motil et al. [1998]
study, patients with RS show evidence
of linear stunting by Z-score and
height-for-age criteria but with rela-
tively normal weight-for-height, body
mass indices, percentage of body fat
estimated from skinfold thickness. The
drop in height velocity occurs at the
same time as weight, suggesting that
poor oral intake is not the only reason
for the short stature.
Patients with RS have a unique
growth pattern, with growth being
affected after birth. Deceleration of
growth in height begins at 14 months
[Schultz et al., 1993]. Although a retro-
spective review of neonatal growth data
of 120 females with RS with mutations
153
on the MECP2 gene showed that
affected females tend to have a smaller
size at birth, with the median of head,
height, and weight in the 30th percen-
tile [Huppke et al., 2003]. Analysis of
organ growth in a postmortem study
shows that thought brain weight is less
than expected for age and height, other
organs (heart, liver, spleen, and kidneys)
weights are appropriate size for height,
but smaller for age [Armstrong et al.,
1999]. This also suggests that the poor
growth is not due to poor nutritional
intake. Increased energy needs as the
cause for the poor growth was ruled
out by Motil et al. [1998]. Huppke
et al. [2001] conducted an evaluation of
38 subjects with RS, he found no evi-
dence of thyroid hormones, estrogens
or growth hormone deficiency [Isaacs
et al., 2003]. As they grow older, nutri-
tional problems become more promi-
nent, with 26% being classified as
severely malnourish [Reilly and Cass,
2001].
In summary, affected females with
RS have poor growth. Gastrointestinal
disorders and poor oral motors skills can
contribute to poor nutrition, but the
etiology of poor growth is not primarily
due to poor oral intake or increased
need for energy. Some children will
need a gastrostomy to maintain nutri-
tion. Abnormal swallow can increase
the risk of morbidity and mortality due
to aspiration.
MYELOMENINGOCELE
Myelomeningocele (MMC) and
related neural tube defects are among
the most frequent and complex malfor-
mations affecting children. Nutrition,
feeding, and growth and can be affected
in multiple ways.
Swallow
Arnold-Chiari II malformation
(ACM) consists of herniation of the
tonsils and the contents of the posterior
fossa into the foramen magnum. This
herniation involves the brainstem,
fourth ventricle, and cerebellar vermis.
ACM often interferes with the flow of
cerebral spinal fluid resulting in hydro-
cephalus. Ninety-five percent of chil-
dren with open spina bifida have some
degree of Arnold-Chiari malformation.
About 5–10% of the children with spina
bifida present with symptoms related to
compression of the brainstem due to
the ACM [Verhoef et al., 2004]. Com-
pression of the brainstem results in is-
chemia and hemorrhages, although
some patients have abnormal anatomic
findings presumed to be congenital
154
[McLone and Dias, 2003]. Feeding
problems due to ACM can present early
in infancy, with poor oral feeding or
aspiration. Other symptoms include
stridor, weakness in the upper extrem-
ities, ataxia, and nystagmus [Hoffman
et al., 1975; Dyste et al., 1989; McLone
and Dias, 2003]. Of the patients with
symptomatic Chiari malformations 32%
present with manifestations of neuro-
genic dysphagia [Pollack et al., 1992].
In a prospective study of infants with
MMC with flexible fiberoptic laryngos-
copy, Linder et al. found that 4 out of
22 children had dysphagia with aspira-
tion; 3 of them had bilateral vocal fold
motion impairment [Linder and Lind-
holm, 1997]. Some children will require
gastrostomy tube placement to maintain
nutrition or prevent pulmonary aspira-
tion [Fernbach and McLone, 1985;
Bowman et al., 2001]. Mortality is high
in subjects with abnormal respiratory
function requiring tracheotomy
[McLone and Dias, 2003]. Some neuro-
surgeons recommend posterior fossa
decompression on an emergency basis
as soon the patient shows any symptom
of Arnold-Chiari [Pollack et al., 1996].
Symptomatic ACM is the most com-
mon cause of death in children with
spina bifida.
Obesity
Overweight is the most frequent
nutritional disease in patients affected
by MMC. Prevalence of obesity ranges
from 29 to 50% depending on the mea-
surement instruments [Van Den Berg-
Emons et al., 2003]. In children with
spina bifida, the assessment of growth
requires different growth measurements
than those used with typical children.
Poor growth in the lower extremities,
along with orthopedic problems such as
hip dislocations, contractures, and scoli-
osis make the measurement of length or
height an inaccurate estimate of linear
growth. The use of weight for height
chart, or body mass index will overesti-
mate the number of children with over-
weight. Therefore, linear growth has to
be assessed by alternative measurements
[Hochhaus et al., 1999]. The measure-
ment of arm span is a good alternative.
Arm span has a good correlation with
height, and can be plotted in the height
growth chart [Charney et al., 1981;
Rosenblum et al., 1983; Rotenstein
et al., 1995]. Other measurements such
as arm circumference and skin-fold can
give an alternative estimation of nutri-
tion [Hayes-Allen and Tring, 1973;
Roberts et al., 1991; Mita et al., 1993].
Several factors contribute for the risk
Dev Disabil Res Rev  FEEDING AND
of obesity. Children with MMC require
less energy, particularly if they are
nonambulatory [Roberts et al., 1991;
Grogan and Ekvall, 1999; Littlewood
et al., 2003; van den Berg-Emons et al.,
2003]. Overweight, in spite of de-
creased caloric intake has been shown
in some studies. Grogan et al. in as
nutritional study on 14 children,
showed that in average, children with
MMC consumed 51% of the Caloric
Recommended Daily Allowances (RDA)
[Grogan and Ekvall, 1999]. In a nutri-
tional study on 100 patients, Fiore et al.
[1998] found that the majority of well-
nourished patients (48/55) were
consuming less than 80% or between 80
and 100% of recommended daily allow-
ances (RDA) of energy while most
overweight patients had an energy
intake lower than their own RDA: 5
below 80%, 25 between 80% and
100%, and only 10 over 100%. The
correlation between physical activity
and overweight is not clear, some stud-
ies found a positive correlation between
level of activity and obesity [Grogan
and Ekvall, 1999] while others did not
[Fiore et al., 1998; van den Berg-
Emons et al., 2003]. Besides the specific
health risks from obesity such as diabe-
tes or increase cardiovascular disease,
obesity can also deteriorate their ability
to ambulate [Asher and Olson, 1983;
Bartonek and Saraste, 2001].
Other factors that can affect linear
growth in children with spina bifida
and hydrocephalus are endocrinologic
disorders such as growth hormone defi-
ciency [Rotenstein and Breen, 1996;
Satin-Smith et al., 1996; Trollmann
et al., 1998; Hochhaus et al., 1999],
hyperthyroidism [Hochhaus et al.,
1997], and precocious puberty [Meyer
and Landau, 1984; Perrone et al., 1994;
Trollmann et al., 1996; Hochhaus et al.,
1997].
SUMMARY
Pierre Robin Sequence (PRS) is
a common craniofacial anomaly charac-
terized by micrognathia, glossoptosis,
and a U-shaped cleft palate. Glossopto-
sis places the infant at high risk for air-
way obstruction, choking, and aspira-
tion of liquid. Primary medical treat-
ment is concerned with preventing
airway obstruction and requires some
modifications of feeding techniques.
Not all infants with cleft lip and/
or cleft lip experience significant feed-
ing difficulties. Feeding problems vary
from minimal for an infant with an iso-
lated cleft lip to infants with a cleft pal-
ate who typically have significant diffi-
SWALLOWING DYSFUNCTION  BROWN ET AL.
culty developing the negative pressure
needed for nipple feeding. Nasopharyn-
geal regurgitation may occur during
feeding an infant with a cleft palate.
Growth of all infants with cleft lip and
palate should be monitored closely.
Breast feeding should always be an
option for infants with isolated cleft lip.
Cleft Lip/Palate Teams and Craniofacial
Teams consist of specialists who are pri-
marily interested in the care of children
who have clefts and other craniofacial
anomalies. Early feeding assessment and
intervention is an important part of
services offered by these healthcare
teams.
Three disorders, DiGeorge syn-
drome, Velocardiofacial syndrome, and
conotruncal anomaly face syndrome,
have been found to have a common
microdeletion of a section of chromo-
some 22, (22q11 deletion). Common
features of 22q11 deletion syndrome
include congenital heart disease, immu-
nodeficiency, hypocalcaemia, cleft lip
and/or palate, other palate anomalies
(submucous cleft, velopharyngeal
incompetence), Pierre Robin Sequence,
speech disorders, otorhinolaryngologic
issues, dysmorphic facies, renal anoma-
lies, skeletal anomalies, cognitive disabil-
ities, and behavioral and psychiatric dis-
orders.
Early feeding disorders are a com-
mon problem for a patient and family
with a 22q11 deletion syndrome. A ma-
jority of patients have feeding difficul-
ties and failure to thrive. Difficulties
include nasopharyngeal reflux, gagging,
and choking, prolonged feeding and
disorganized suck-swallow-breath coor-
dination, difficulty with advancing tex-
tures. Pharyngeal hypotonia has been
found in many patients and correlates
with generalized hypotonia. Fatigue
with feedings may also be a factor
related to cardiac anomalies and the
hypotonia. Feeding difficulties may be
exacerbated by anatomical tracheolar-
yngeal abnormalities such as laryngeal
web or vascular rings. Beyond infancy,
many patients have difficulties with
increased volume of feedings and
changes in food textures. Many patients
are commonly diagnosed with gastro-
esophageal reflux (GERD), esophageal
dismotility, and constipation, all of
which compound their feeding disor-
ders. Management of feeding difficulties
requires a multidisciplinary team includ-
ing feeding specialists with management
based on those factors identified as neg-
atively effecting feeding.
Many individuals with Down syn-
drome have oral, anatomical, and struc-
Dev Disabil Res Rev  FEEDING AND
tural differences that predispose them to
potential feeding problems. Coupled
with oral motor problems and frequent
dental anomalies, the result is, though
usually minor, an increase in feeding
problems. As a general rule, unless
compromised by a severe co-morbidity,
i.e., severe congenital heart problems,
feeding problems were minimal with
most Down syndrome children being
totally independent feeders by early
childhood. Management of obesity
should be a top priority in adolescents
and young adults with Down syndrome
and include early nutritional education,
weight monitoring, direct adult supervi-
sion with severe food restriction, and
exercise.
Children with William Syndrome
typically have mild to moderate mental
retardation. They often have strengths
in language and verbal short-term
memory, and weaknesses in visual-
spatial construction. Children with
Williams Syndrome are often described
as overly friendly, hyperactive, inatten-
tive, hypersensitive to loud sounds or
certain types of noises, and overly anx-
ious with feeding problems being
behavior related.
Inborn errors of metabolism can
cause feeding problems. Many of the
disorders have complicated and restric-
tive diets. Some patients may rely on
metabolic formulas for the majority of
their nutrition. Lysosomal storage disor-
ders in particular can cause feeding dis-
orders with disorganized swallowing
and aspiration risk making a feeding
tube necessary. Prader-Willi syndrome
first described in 1957 is viewed as hav-
ing two identifiable phases. Phase I of
the syndrome includes, the prenatal,
neonatal, and early infancy period.
During phase I of the syndrome chil-
dren often experience diminished fetal
activity, poor muscle tone, and failure
to thrive. The onset of phase II typi-
cally occurs between 2 and 3 years of
age. During this phase uncontrollable
hunger surfaces and children often
demonstrate food seeking behaviors.
Management of feeding issues in PWS
is effective when there is a clear under-
standing of the reason behind the feed-
ing difficulty.
Rett syndrome (RS), first recog-
nized in 1966, presents with severe fail-
ure to thrive following a period of
regression. The reason for the failure to
thrive is not clear because girls with
short stature do not necessarily have
poor feeding. A decrease in growth is
apparent in 85–90% of the patients,
inspite of normal or even increased
SWALLOWING DYSFUNCTION  BROWN ET AL.
appetite. Some patients have feeding
problems such as prolonged feeding
times (92%), lack of self-feeding skills
(92%), and poor oral motor control
(69%). Most females with RS are com-
pletely dependent for eating (83.7%),
and only a very small number (1.2%)
are independent for eating. Many have
esophageal and gastric dismotility
(69%). As they grow older, nutritional
problems become more prominent,
with 26% being classified as severely
malnourish with poor growth.
Myelomeningocele (MMC) and
related neural tube defects are among
the most frequent and complex malfor-
mations affecting children. Nutrition,
feeding, and growth and can be affected
in multiple ways. Ten percent of the
children with spina bifida present with
symptoms related to compression of the
brainstem due to the ACM which can
present early in infancy, with poor oral
feeding or aspiration, ataxia, and nystag-
mus. Children with thoracic and high
lumbar defect, the sensory and motor
innervations of the lower extremities are
impaired. The resulting lack of use and
neuronal growth factors results in poor
growth of the lower extremities. Over-
weight is the most frequent nutritional
disease in patients affected by MMC.
Prevalence of obesity ranges from 29 to
50%. n
REFERENCES
Amir RE, Van den Veyve IB, Wan M, et al. 1999.
Rett syndrome is caused by mutations in X-
linked MECP2, encoding methyl-CpG-
binding protein 2. Nat Genet 23: 185–188.
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