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

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

' 2008 Wiley -Liss, Inc.

 1992; Arvedson and Brodsky, 2002;
Table 1. Frequent Feeding Problems in Children Wagener et al., 2003]. As oral feedings
with Genetic Syndromes are introduced, an infant may continue
to require NG feedings until oral feed-
Dysfunction Problems
ing is fully established. Infants with
Brain stem dysfunction Dysphagia more significant airway difficulties may
Cortical irritable focus Seizures need more facilitation and compensa-
VPI Nasal pharyngeal reflux tions, and in the most severe cases gas-
GER Food refusal; aspiration, poor swallowing trostomy tubes have been required
Craniofacial abnormality Poor feeding, aspiration
Constipation Makes GERD worse [Wolf and Glass, 1992; Arvedson and
Periodontal disease Poor chewing; pain Brodsky, 2002]. Reports of the use of
Reduced saliva production Dry mouth, poor feeding feeding tubes (nasogastric and gastros-
Large tongue Oral food loss; difficulties swallowing tomy) vary for 40–86% [Baujat et al.,
Small oral cavity Poor chewing; incomplete chewing of food
Narrow, short palate Choking 2001; Li et al., 2002; Smith and Send-
Severe bruxism Nasal aspiration; sneezing; choking ers, 2006]. Evans et al. [2006] reported
Oral hypotonia Poor feeding 42% of patients received gastrostomy
Abnormal tongue Movement Poor suck; choking tubes. Some studies combined numbers
Uncoordinated suck emesis Retention of food; choking poor
and swallowing swallowing choking; aspiration
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
microsomia [Evans et al., 2006; Smith successful in 2–27% of patients [van den have required only this position for air-
and Senders, 2006]. Incidence of PRS is Elzen et al., 2001; Li et al., 2002]. Tra- way stabilization but infants may con-
reported at 1 in 2,000 births [Arvedson cheostomies have been required in tinue to have difficulties [Takagi et al.,
and Brodsky, 2002]. With micrognathia 3–27% of infants [van den Elzen et al., 1966; Smith and Senders, 2006]. Oral
(small jaw) or retrognathia, the chin is 2001; Li et al., 2002; Smith and Senders, feeding attempts should be 15–20 min
posteriorly displaced causing the tongue 2006]. Mandibular distraction has been or even shorter durations due to the
to fall backward toward the posterior reported successful in 7% [Smith and effort and fatigue with feeding. Feeding
pharyngeal wall (glossoptosis). Glossop- Senders, 2006]. Ortiz et al. [2004] facilitating techniques including use of
tosis places the infant at high risk for air- reported on swallowing of infants prior pacifier, lingual massage to relax and
way obstruction, choking, and aspiration to and following ontogenesis distraction. anteriorize the tongue, soft nipple with
of liquid [Ortiz et al., 2004]. Primary They noted that 66% showed penetra- enlarged hole, symmetric positioning,
medical treatment is concerned with tion, 50% had stasis in the pharynx, 28% ensuring nipple placement on the
preventing airway obstruction. In many had prolonged transit times, and 5.5% tongue, and rhythmic movement of the
cases, prone positioning that allows grav- displayed aspiration prior to surgery. Af- nipple have been shown to improve
ity to maintain a tongue forward position ter distraction all problems were intake volumes and decrease feeding
is successful and in others nasopharyn- resolved. In addition, they noted that times compared with the standard treat-
geal tubes are placed to mechanically prior to surgery that severe apnea (>15 ment of using nipple with enlarged hole
open the pharynx [Wagener et al., sec) triggered gastro esophageal reflux. [Nassar et al., 2006]. Palatal obturators
2003]. Studies have reported varying Baujat et al. [2001] report that infants have also been used to assist with feed-
degrees of success in positional airway with PRS also have abnormal esophageal ing [Li et al., 2002]. Nipple choice is
management from 52% [Evans et al., manometry findings including lower very important in the micrognathia. A
2006], 63% [van den Elzen et al., 2001], esophageal sphincter hypertonia, failure longer nipple is usually more beneficial
68% [Smith and Senders, 2006], 74.5% of relaxation of the lower esophageal to allow placement of the nipple on the
[Li et al., 2002]. Nasopharyngeal tubes sphincter, and esophageal dyskinesia. tongue in an appropriate position to
have also been used to maintain a pha- Results indicated that all patients showed deliver milk to the middle tongue [Wolf
ryngeal airway in some hospitals, 2–8% improvement in esophageal movement and Glass, 1992]. As facial growth
[van den Elzen et al., 2001; Li et al., by 12 months of age. Baujat suggested occurs in a downward and forward
2002]. Surgical procedures may include that the abnormalities observed are direction, the airway status improves.
glossopexy, tracheostomy, lip-tongue ad- caused by impaired control of the esoph- Infants who have required tracheostomy
hesion, and mandibular distraction agus. are typically decannulated after adequate
osteogenesis. [Li et al., 2002; Wagener airway growth and posterior cleft palate
et al., 2003; Ortiz et al., 2004; Evans repair. When the appropriate develop-
et al., 2006; Smith and Senders, 2006]. Feeding Management mental levels are reached, these children
Surgical intervention options may vary Feeding management with infants become spoon-feeders, self-feeders, and
among institutions and surgeons [Evans with PRS varies from patient to patient. learn to eat table foods [Arvedson and
et al., 2006]. In addition, the literature Initially, feeding may be via nasogastric Brodsky, 2002].
reports a range of need for surgical inter- tubes as the airway is assessed and
vention to improve airway status when appropriate management is determined.
prone positioning has not been successful If there are no neurological or other CLEFT LIP/PALATE
(37–44%) [Li et al., 2002; Wagener et al., structural issues, once the airway is sta- Infants with cleft lip and cleft pal-
2003; Ortiz et al., 2004; Evans et al., bilizes many infants feed with minor ate typically require some modifications
2006; Smith and Senders, 2006]. Lip- adjustments related to cleft palate [Wolf of feeding techniques. Not all infants
tongue adhesion has been reported to be and Glass, 1992; Singer and Sidoti, and children with cleft lip and/or cleft
148 Dev Disabil Res Rev  FEEDING AND SWALLOWING DYSFUNCTION  BROWN ET AL.
lip experience significant feeding diffi- successful breast feedings [Garcez and should be seated in a supported position
culties [Masarei et al., 2007]. Feeding Giugliani, 2005]. Other infants and and offered food from a spoon. Initial
problems vary from minimal for an those with larger palate clefts have the presentations of food may result in
infant with an isolated cleft lip to major poorest prognosis for breast feeding due sneezing and greater amounts of nasal
feeding issues for infants with cleft pal- to the lack of separation between the regurgitation but will usually decrease as
ate and multiple other anomalies. Strat- oral and nasal cavities and inability to the infant learns to manipulate the food
egies to optimize growth and develop- develop negative intraoral pressure in the mouth more skillfully [Arvedson
ment are vital regardless of the severity [Wolf and Glass, 1992; Arvedson and and Brodsky, 2002].
of the feeding difficulties. Infants with Brodsky, 2002; Garcez and Giugliani,
an intact palate create negative intraoral 2005]. Some infants have been fed with Feeding Considerations Following
pressure as their lips and tongue form a supplemental nursing systems that allow Lip and Palate Repair
seal around the nipple and the tongue the infant to attempt feeding at the Postoperative feeding techniques
produces rhythmic sucking motions. An breast and receive pumped breast milk. for infants following primary lip repair
intact soft palate elevates to seal off the Other mothers may pump breast milk and primary palate repair vary consider-
nasopharynx. Infants with isolated cleft and feed using a bottle. The reported ably based on tradition and surgeon’s
lip usually feed without much difficulty. rate of breast feeding either directly at experience and preferences [Cohen
Infants with a cleft palate typically have the breast or expressed breast milk fed et al., 1992]. Following primary lip
significant difficulty developing the neg- through a bottle varies from 1 to 67% repair recommendations range from im-
ative pressure needed for nipple feeding at 7 months of age [Garcez and Giu- mediate nipple feeding to no nipple
due to the inability to seal the nasal gliani, 2005]. Palatal obturators are used feeding for up to 6 weeks. When nipple
cavity and nasopharynx from the oral in some centers with varying degrees of feeding is not recommended, cup
cavity and oropharynx [Reid et al., success [Glenny et al., 2004]. drinking or spoon is introduced prior
2007]. Nasopharyngeal regurgitation to the lip repair surgery. Darzi et al.
may occur during feeding an infant Bottle Feeding Modifications [1996] found that those infants allowed
with a cleft palate. Several different bottles and nipple to breast feeding following cleft lip
In addition, infants with cleft pal- have been designed for children born repair had better weight gain following
ate usually ingest excess air due to the with clefts. Infants with cleft palate with surgery than those that were spoon fed.
lack of separation between the nasal and or without cleft lip are likely to feed Following primary palate repair it is
oral cavities. This may lead to bloating; successfully with a nipple that requires common practice for children to do no
choking, gagging, fatigue with feeding, only compression (Haberman Feeder, sucking or take hard solids to prevent
prolonged feeding times and contributes Pigeon Cleft Palate Nurser) or a cross- dehiscence of the suture line(s). Cup
to spitting up and emesis. These diffi- cut nipple with a squeezable bottle drinking and soft food diet is recom-
culties may persist beyond 12 months of (Mead-Johnson Cleft Palate Nurser). mended during the postoperative pe-
age. An infant with a cleft palate and Enlarging nipple holes is done fre- riod. Length of time after surgery of
neurological impairments or syndromes quently, but should be done with cau- abstinence from sucking or hard solids
may have oral motor difficulties that tion. Milk flow should not be increased is determined by the surgeon with a
further complicate the feeding process. so that it compromises the coordination maximum time likely to be 5 weeks
The nutritional status and growth of all of normal swallowing and breathing ac- [Arvedson and Brodsky, 2002].
infants with cleft lip and palate should tivity [Wolf and Glass, 1992]. Research
be monitored closely. on the most effective method of feeding Intervention Teams
is inconsistent [Glenny et al., 2004]. Cleft Lip/Palate Teams and Cra-
Breast Feeding Modifications Shaw et al. [2004] found that infants niofacial Teams consist of groups of spe-
Feeding breast milk to infants has with clefts that had assisted feeding with cialists who are primarily interested in
multiple benefits including immuno- squeeze bottles had fewer reported the care of children who have clefts and
logic and infection-protection [Bian- feeding difficulties than those fed with a other craniofacial anomalies. Early feed-
cuzza, 1998]. Cleft infants fed breast rigid bottle and modified nipples. Posi- ing assessment and intervention is an
milk have had less middle ear effusions tioning during feeding is also very im- important part of services offered by
than those fed formula [Paradize et al., portant. General guidelines include these healthcare teams. The American
1994]. The children with clefts who holding the infant in a more upright Cleft Palate and Craniofacial Association
received longer periods of breast feed- position to minimize entry of formula/ (ACPA) and the Cleft Palate Founda-
ing have been found to have better breast milk into the nasal cavity and eu- tion (CPF) are excellent resources for
school performance [Erkkila et al., stachian tubes during sucking and swal- parents and healthcare professionals.
2005]. Breast feeding is always an lowing activity [Wolf and Glass, 1992;
option for infants with isolated cleft lip Arvedson and Brodsky, 2002]. Infants VELOCARDIOFACIAL
[Garcez and Giugliani, 2005]. Some as- should be burped frequently during the SYNDROME (DIGEORGE
sistance may be needed initially prior to feeding due to the increased ingestion SYNDROME,
full milk production. Different feeding of air. Palatal obturators also are used in VELOCARDIOFACIAL
positions may need to be tried for the some centers to assist with bottle feed- SYNDROME, 22q11 DELETION
infant to obtain adequate seal on the ing [Wolf and Glass, 1992; Glenny SYNDROME)
breast and for effective expression of et al., 2004]. Three clinical disorders, DiGeorge
milk. Mothers may use one hand to syndrome, Velocardiofacial syndrome,
provide additional cheek and lip support Solids and conotruncal anomaly face syn-
to facilitate improved seal [Biancuzza, An infant born with cleft lip/pal- drome, have been found to have a com-
1998]. Some infants with small soft pal- ate should be ready to eat strained foods mon microdeletion of a section of chro-
ate clefts or submucous cleft may be at the same age as other infants. Infants mosome 22, called 22q11 deletion.
Dev Disabil Res Rev  FEEDING AND SWALLOWING DYSFUNCTION  BROWN ET AL. 149
Therefore, these three syndromes have
been called 22q11 syndromes. Incidence Table 2. Feeding Problems in Down syndrome
of 22q11 deletion syndrome is 1 in
Cause Result Feeding problem
4,000 to 6,000 births [Goldmuntz,
2005]. Common features of 22q11 de- Periodontal disease Tooth loss Poor chewing; pain
letion syndrome include congenital Reduced saliva Production Dry mouth Poor feeding
heart disease, immunodeficiency, hypo- large tongue Oral food loss Difficulties swallowing
calcaemia, cleft lip and/or palate, other small oral cavity Poor chewing Incomplete chewing of food choking
narrow, short palate Nasal aspiration Pain; sneezing, choking
palate anomalies (submucous cleft, velo- Severe bruxism Dental damage Pain; poor feeding
pharyngeal incompetence), Pierre Ro- oral hypotonia Poor suck Choking, poor feeding
bin Sequence, speech disorders, otorhi- abnormal tongue movement Pocketing of food Retention of food; choking
nolaryngologic issues, dysmorphic fa- uncoordinated suck and swallowing Poor swallowing Choking; aspiration; emesis
cies, renal anomalies, skeletal anomalies,
Ref: Van Dyke et al., 1990; Sterling et al., 1992.
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- ogists, Genetics, Pediatrics, Endocrinol- Role of Comorbidities and Feeding
mon problem for a patient and family ogists, Psychologists, and Nutritionists) Chronic illnesses such as congeni-
with a 22q11 deletion syndrome. A ma- are crucial. With the consistency of dif- tal heart disease, esophageal, stomach,
jority of patients have feeding difficulties ficulties observed across individuals with and bowel dysmotility, and anatomical
and failure to thrive. Difficulties include 22q11 deletion in the absence of palatal abnormities requiring surgical interven-
nasopharyngeal reflux, gagging, and and cardiac defects, a referral for an tions are common problems leading to
choking, prolonged feeding and disor- early feeding evaluation is advocated by poor feeding and poor growth in Down
ganized suck-swallow-breath coordina- many [Eicher et al., 2000]. Management syndrome individuals [Cronk et al.,
tion, difficulty with advancing textures. is based on those factors identifies as 1981; Baer et al., 1990]. Congenital
Pharyngeal hypotonia has been found in affecting the feeding. If hypotonia is heart disease is a frequent co-morbidity
many patients and correlates with gener- identified, facilitating techniques includ- in Down syndrome (50%). Poor feed-
alized hypotonia [Eicher et al., 2000; ing chin and cheek support during bot- ing, tiring with feeding, poor growth
Cuneo, 2001]. Fatigue with feedings tle feeding, supported positioning, and are all signs of moderate to severe con-
may also be a factor related to cardiac shorter feeding times are generally genital heart disease [Cronk et al.,
anomalies and the hypotonia [Cuneo, attempted. For presence of cleft palate 1981]. The development of poor feed-
2001]. Feeding difficulties may be exa- or velopharyngeal difficulties, adaptive ing in a previously good feeder in a
cerbated by anatomical tracheolaryngeal nipples and upright positioning dis- child with Down syndrome with know
abnormalities such as laryngeal web or cussed in the Cleft Palate section may heart disease should be suspect for con-
vascular rings. Eicher et al. [2000] also be appropriate. For those patients with gestive heart failure until proven other-
identified hyperdynamic middle pharyn- cardiac anomalies, shorter oral feeding wise.
geal constrictor resulting in increased na- sessions with optimized caloric density
sopharyngeal regurgitation, and crico- of the formula/food should be consid-
pharyngeal prominence. Beyond infancy, ered within the entire medical status Obesity
many patients have difficulties with and needs of the child. If the toddler or Obesity is a major concern in the
increased volume of feedings and older child displays behavioral difficul- older child, adolescent, and adult with
changes in food textures [Cuneo, 2001; ties with mealtimes and intake, behav- Down syndrome [Pipes and Holm,
Eicher et al., 2001]. Many patients are ioral interventions may be beneficial to 1980; Baer et al., 1990]. Obesity can
commonly diagnosed with gastroesopha- improve mealtime behaviors and oral result in early degenerative joint disease,
geal reflux (GERD), esophageal dismo- intake. reduced activity levels, and the develop-
tility, and constipation, all of which ment of cardiopulmonary disease. We
compound their feeding disorders have seen one case in an obese adoles-
[Eicher et al., 2000; Cuneo, 2001]. Gas- DOWN SYNDROME cent female who developed OSA lead-
trostomy tubes are needed in some ing to pulmonary hypertension, and
patients to maintain adequate caloric Anatomical Differences finally to congestive heart failure requir-
intake [Eicher et al., 2000; Goldmuntz, Many individuals with Down syn- ing an admission to a PICU.
2005]. Behavioral difficulties including drome have oral, anatomical, and struc- A retrospective study by Pipes and
poor social skills, deficits in attention and tural differences that predispose them to Holm [1980] showed that problem areas
communication may contribute to be- potential feeding problems [Van Dyke leading to obesity in Down syndrome
havioral issues around feeding as the et al., 1990; Sterling et al., 1992]. were:
child develops [Goldmuntz, 2005]. Coupled with oral motor problems and  Inappropriate intake of nutrient and
frequent dental anomalies, the result is,
calorie
Feeding Management though usually minor, an increase in  Retention and acceptance of poor
Management of feeding difficul- feeding problems [Van Dyke et al.,
eating habits
ties in infants with children requires a 1990; Sterling et al., 1992]. Frequent  Inappropriate feeding practice by
multidisciplinary team including feeding oral and dental differences that poten-
parents.
specialists (Speech-Language Patholo- tially predispose and maybe frequently
gists, Occupational Therapists), medical associated with feeding problems are However, the overall situation
specialists (Gastroenterologists, Cardiol- seen in (Table 2). may not be that simple and possibly
150 Dev Disabil Res Rev  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 that these individuals were to develop with Williams syndrome typically have
and storage at the cellular level. Man- pneumonia. Those with a good cough mild to moderate mental retardation.
agement of obesity should be a top pri- and mechanisms of clearing their airway They often have strengths in language
ority in adolescents and young adults rarely developed pneumonia. However and verbal short-term memory, and
with Down syndrome and include early in the individual with repeated episodes weaknesses in visual-spatial construc-
nutritional education, weight monitor- of pneumonia, aspiration with poor tion. Children with Williams syndrome
ing, direct adult supervision with severe clearing needed to be a serious consid- are often described as overly friendly,
food restriction, and exercise. eration. hyperactive, inattentive, hypersensitive
to loud sounds or certain types of
Oral Motor Dysfunction Facial Reconstructive Surgery noises, and overly anxious.
Studies of oral feeding in individ- Facial reconstructive surgery has Children with Williams syndrome
uals with Down syndrome, particularly been advocated for children with Down require the care of multiple health care
young children, have shown a frequency syndrome particularly in some countries professionals due to multisystem
of feeding problems ranging from outside the United States as far back as involvement. Initial care may center on
50–80% [Pipes and Holm, 1980; Van the early 1980s [Parens, 2006]. The use failure to thrive, hypercalcemia, or
Dyke et al., 1990]. Detailed feeding of facial reconstructive surgery in chil- repair of cardiac lesion. Hypercalcemia
assessments have shown both delays and dren with Down syndrome, however, is frequently asymptomatic but can pres-
aberrant oral-motor function with continues to be rare and at best con- ent with decreased feeding, irritability,
abnormal-tongue/jaw function and dif- troversial [Parens, 2006; http://www. and severe colic in infancy that can lead
ficulty initiating and maintaining the wikipedia.org]. Tongue reduction sur- to poor weight gain. Feeding problems
feeding sequence [Van Dyke et al., gery for improving articulation has been can be secondary to cardiac defects, but
1990; Spencer et al., 1996]. Commonly one form of facial reconstructive surgery are usually related to behavior issues.
reported feeding concerns of parents advocated [Parsons et al., 1987; Stoel-
were poor suck and lip closure, difficul- Gammon, 2001]. However, studies of INBORN ERRORS OF
ties chewing, and uncoordinated swal- articulation in individuals with and with METABOLISM AND FEEDING
low leading to choking and gagging out surgery have shown no significant DISORDERS
[Van Dyke et al., 1990]. As a general differences between the two groups Inborn errors of metabolism can
rule, unless compromised by a severe [Parsons et al., 1987; Stoel-Gammon, cause feeding problems. A summary of
co-morbidity, i.e., severe congenital 2001]. Facial reconstructive surgery in metabolic errors with feeding problems
heart problems, feeding problems were individuals with Down syndrome re- is seen in Table 3. Unlike most other
minimal with most Down syndrome mains an area of discussion and contro- genetic disorders, the feeding problems
children being totally independent versy. inherent to metabolic defects are in
feeders by early childhood [Van Dyke general not due to structural anomalies.
et al., 1990]. WILLIAMS SYNDROME The feeding problems are often second-
Williams syndrome (WS) or ary to neurological sequelae of the dis-
Swallowing and Aspiration Williams-Beuren syndrome (WBS) is a ease, or inherent to the metabolic needs
Radiographic (videofloroscopy) rare disorder occurring in 1 in 20,000 of the patients. Over 300 human dis-
studies in some individuals with Down to 50,000 live births [Sugayaman et al., eases due to inborn errors of metabo-
syndrome have shown abnormalities in 2007]. It is characterized by distinctive lism are now recognized, thus the
both the oral and pharyngeal phases of facial features and a neurodevelopmental potential burden to families and practi-
swallow. If aspiration did occur it was profile that involves four areas: cognitive tioners is significant. Many of the disor-
usually silent [Frazier and Friedman development, language, auditory func- ders have complicated and restrictive
1996]. However, this does not mean tion, and visual-spatial skills. Children diets. Some patients may rely on meta-
Dev Disabil Res Rev  FEEDING AND SWALLOWING DYSFUNCTION  BROWN ET AL. 151
bolic formulas for the majority of their et al., 2003]. If they have had a previous cause feeding disorders in two ways.
nutrition. As with most medical care, metabolic decompensation, their ability First, they can have central nervous sys-
adherence can be a problem. As chil- to eat may be impaired. tem (CNS) involvement with disorgan-
dren get older and have more ized swallowing and aspiration risk.
autonomy, dietary restriction becomes ‘‘Energy Deficiency’’ Disorders of This in turn can make a feeding tube
more difficult and metabolic control Energy Production or Utilization necessary.
becomes tenuous. Common symptoms of these Another complication from stor-
patients include hypoglycemia, hyper- age disease is the overgrowth of the
Inborn Errors of Intermediary lactacidemia, severe generalized hypoto- liver and/or spleen. The organ enlarge-
Metabolism That Lead to Acute or nia, myopathy, cardiomyopathy and fail- ment in turn compresses on hollow
Progressive Intoxication ure to thrive. The organ systems most organs in competing for space. By com-
This class of metabolic defects affected by energy deficits are those that pressing the stomach and intestines,
causes upstream buildup of metabolites rely on muscle cell function. These there is a premature satiety and
that are toxic to the cells and overall or- problems are most evident in heart, decreased appetite, as well as risk for
ganism functioning. Two major groups smooth muscle in GI tract, swallowing obstruction [Yeh et al., 2003].
of metabolic defects that are included in coordination and brain functioning.
this category are urea cycle defects and Mitochondria are essential for aer- FEEDING AND SWALLOWING
organic acidurias. Both of these types of obic energy production. With defects in ISSUES IN PRADER-WILLI
disorders are caused by defects in pro- this pathway, the cells do not have SYNDROME
tein metabolism and are exacerbated by enough ATP to perform their normal Another genetic disorder which
catabolism and illness. functions. Patients with disorders of mi- often results in problematic feeding and
Patients with intoxication disor- tochondrial metabolism in turn have swallowing issues during infancy is the
ders have inherent problems with meet- feeding problems related to their energy condition first described by endocrinol-
ing their nutritional requirements. They deficits. Feeding disorders in patients ogists Prader, Labhart, and Willi in
tend to be anorectic, so oral feeding is with mitochondrial disease can occur 1957 and is known today as Prader-
problematic. Even when tube feeding is anywhere in the process of nutrient Willi syndrome (PWS) [Denizot et al.,
used, the special caloric needs can lead intake. Disorganized and slow swallow- 2004]. Individuals with Prader-Willi
to poor nutritional status with growth ing, gastroesophageal reflux, dysmotility have either a chromosome deletion of
retardation, osteoporosis, chronic ane- with delayed gastric emptying, intestinal 15q11-q13, or maternal disomy 15 or
mia, and hypotonia. Baseline neurologi- pseudo-obstruction, diarrhea and pan- uniparental disomy, or in a small num-
cal outcome tends to be impaired by creatic exocrine insufficiency are some ber a small atypical deletion of the
both acute and chronic basal ganglia of the common concerns. imprinting center. Signs of PWS may
involvement [de Baulny, et al. 2005]. Disorders of glycogen storage also be seen at birth and the condition is
One of the organic acidurias in have energy deficits, prior to the pro- characterized by diminished fetal activ-
particular is notorious for problems duction of ATP. Normal metabolism ity, profound poor muscle tone, feeding
with feeding. Patients with neonatal during times of fasting uses glucose problems in infancy, underdeveloped
onset propionic acidemia, a disorder of available in the blood, and then pro- sex organs, short stature, small hands
branched-chain metabolism, have pro- ceeds to using simple sugars stored as and feet, delayed developmental mile-
gressive failure to thrive in the first glycogen in the liver. If the liver is stones, characteristic faces, cognitive
years of life if they must rely on oral unable to break down glycogen to glu- impairment, onset of gross obesity in
feedings. In a cohort study of propionic cose, the patient develops low blood early childhood due to insatiable hunger
acidemia patients, all children had sugars, which can lead to cardiovascular [Gunay-Aygun et al., 2001]. PWS is
increasing anorexia with frequent vom- collapse from energy deficiency. Patients viewed as having two identifiable
iting, and parents had greater difficulty with glycogen storage diseases, require phases. Phase I of the syndrome
maintaining metabolic stability at home frequent meals around the clock. This includes, the prenatal, neonatal, and
and meeting caloric requirements dur- can be problematic during ‘‘normal’’ early infancy period. During phase I of
ing intercurrent infection. When gas- fasting times, especially overnight. Thus, the syndrome children often experience
trostomy tube feedings were imple- many patients require continuous night- diminished fetal activity, poor muscle
mented, parents reported that home time feedings via NG tube or gastros- tone, and failure to thrive. The onset of
care was easier and less stressful to the tomy tube. However, this requirement phase II typically occurs between 2 and
family [North, 1995]. usually resolves by after the first year of 3 years of age. During this phase
When patients are ill and ence- life, due to ability to use cornstarch for uncontrollable hunger surfaces and chil-
phalopathic they are at greatest need for sustained glucose release [Lund and dren often demonstrate food seeking
increased caloric intake. Decompensa- Leonard, 2001]. behaviors. It is ironic that early on these
tion can be caused by catabolic stress, children present with significant feed-
such as vomiting, diarrhea, febrile ill- Lysosomal Storage Defects ing problems and instances of poor
ness, and decreased oral intake. The Lysosomal storage defects are weight gain only to later develop obe-
treatment is to increase caloric intake, caused by abnormal build-up of com- sity with an insatiable desire to eat. It is
and eliminate toxic amino acids and plex molecules in the lysosomes of the the feeding problems associated with
other precursors [Seashore, 2006]. cells. This causes engorgement of the phase I of this disorder that is directly
Strokes in organic acidurias and cells and dysfunction of the cells by in- related to the infants poor muscle tone
urea cycle defects are common after hibiting normal cell mechanisms. Lyso- or hypotonia.
metabolic decompensation. They often somal storage diseases have symptoms in Management of feeding issues in
affect the caudate and putamen with every organ system, including the gas- PWS is effective when a clear under-
resulting oromotor dysfunction [Keegan trointestinal tract. Lysosomal storage can standing of the reason behind the feed-
152 Dev Disabil Res Rev  FEEDING AND SWALLOWING DYSFUNCTION  BROWN ET AL.
ing difficulty exists. For infants with gested. This can be accomplished by berg et al., 2002]. In 2002, Amir et al.
PWS the cause of their feeding and placing the thumb and index or middle identified mutations in the X-linked
swallowing problems is their underlying finger on suck pads while providing lat- methyl-CpG-binding protein 2 (MECP2)
hypotonia resulting in a poor suck. eral pressure to the purse the lips. [Wolf as the cause of the RS. [Amir et al.,
[Morgan and Rolles, 1984; Gunay- and Glass, 1992]. If direct external sup- 1999]. Several studies have shown that
Aygun et al., 2001; Denizot et al., port is being offer the primary feeder about 80% of the girls with RS have a
2004]. Management of this phenomena may find it more manageable if smaller MECP2 mutation [Bienvenu et al.,
is possible, if an appropriate feeding bottle, such as the Volu-feed available in 2000; Huppke et al., 2000; Auranen
plan exist that allows for three primary most hospitals, is used. Building tone in et al., 2001; Bourdon et al., 2001; Chae
factors: the tongue is often the next necessary et al., 2002]. A few boys with congeni-
step. This can be accomplished by mod- tal encephalopathy in families with
(a) The feeding program must be safe.
ifying the head position into a neutral another girl with RS have been
(b) The feeding program must support
or slightly flexed position while provid- described with a MECP2 mutation.
optimal growth.
ing support to the head and providing Growth retardation is one of the
(c) The feeding program must be realis-
firm pressure to the midline of the supportive signs of RS. Some children
tic [Wolf and Glass, 1992].
tongue [Wolf and Glass, 1992]. with RS can present with severe failure
The PWD infant ‘‘poor sucking Despite the best efforts some to thrive during the period of regres-
behavior’’ is twofold. First, the PWS infants with PWS may require the need sion. Motil et al. studied 13 subjects
infant often experiences difficulty latch- for alternative feedings. This is due to with feeding problems with less prefer-
ing on to a nipple due to the oral cavity the infant’s inability to meet the neces- ence to hard-to-chew foods such as
being marked with excessive low mus- sary nutritional requirements to sustain meats. They showed that some patients
cular tone. The consequence is an growth through oral feedings alone. do have feeding problems such as pro-
inability to obtain a seal around the nip- The use of any form of alternative feed- longed feeding times (92%), lack of self-
ple causing poor intra-oral pressure ing (i.e., nasal gastric tube feedings, gas- feeding skills (92%), and poor oral
which contributes to the infant’s inabil- trostomy, or gavage feedings) does not motor control (69%) [Armstrong et al.,
ity to successfully draw the liquid from necessarily imply that the patient is 1999]. Most females with RS are com-
the nipple. The second parameter con- unable to continue to experience oral pletely dependent for eating (83.7%),
tributing to the infant’s poor suck is the feedings, as long as chronic aspiration is and only a very small number (1.2%)
underlying tone of the tongue muscle not a by product of the underlying are independent for eating [Leonard
itself. Poor tone in the tongue can con- hypotonia of the infant, oral feedings et al., 2001]. Laryngeal penetration and
tribute to an inability to draw the liquid can continue as a supplement or experi- aspiration is common in girls with feed-
from the nipple as well. In adequate ence to the alternative feedings. It is ing problems. Many had esophageal and
movement or poor tongue skills do not important to note that the majority of gastric dismotility (69%). All these
allow for the needed compression of PWS infants continue with some form abnormalities could explain poor oral
the nipple necessary to draw the liquid of oral feedings. The experience of intake, in spite of reported good appe-
from the bottle. The result is a fatigued continued oral feedings is important as tite by parents. However, the reason for
and frustrated infant and parent exposed the infant’s underlying hypotonia will the failure to thrive is not clear, because
to extended feeding periods with lim- improve to allow for more optimal girls with short stature do not necessar-
ited caloric intake. Often, in an attempt feeding patterns. ily have poor feeding. A decrease in
to overcome these two obstacles care- growth is apparent in 85–90% of the
givers are instructed to cut a hole in the RETT SYNDROME patients, inspite of normal or even
nipple of the bottle to allow for ‘‘easier’’ The classic presentation of RS increased appetite [Motil et al., 1994].
flow of the liquid with the idea being affects only females, and is characterized Though poor weight gain has often
that the infant has to work less. A com- by a normal prenatal and perinatal his- been reported, some of the studies
mon occurrence is that the liquid flow tory, with normal development during reporting poor weight failed to assess
is too fast and reaches the pharyngeal the first months of life [Rett, 1966; the effect of short stature [Motil et al.,
recesses prematurely resulting in aspira- Hagberg et al., 1983]. Between 6 and 1994; Reilly and Cass, 2001; Isaacs
tion or penetration of the liquid, either 36 months affected females have loss or et al., 2003]. In a Motil et al. [1998]
of which is judged to be a negative ex- decrease of acquired skills in language, study, patients with RS show evidence
perience by the infant. Thus, the PWS communication, and purposeful use of of linear stunting by Z-score and
infant’s inability to safely manage the hands. The loss of use of hand function height-for-age criteria but with rela-
‘‘easier’’ flow nipple and is often met and the development of stereotype tively normal weight-for-height, body
with disinterest and/or avoidance movements of the hands (hand washing, mass indices, percentage of body fat
behavior. hand wringing, clapping, patting) is one estimated from skinfold thickness. The
There are several techniques that of the behavioral phenotypes that is drop in height velocity occurs at the
will support the PWS infant’s ability to most characteristic of this syndrome. same time as weight, suggesting that
they include the use of a wider base Head circumference shows a decelera- poor oral intake is not the only reason
nipple to assist the infant in obtaining a tion of head growth that can be noticed for the short stature.
seal around the nipple to allow for the starting at 3 months of age, sometimes Patients with RS have a unique
build-up of intra oral pressure. Com- resulting in microcephaly. Gross motor growth pattern, with growth being
mercially available bottles such as the skills are also affected, with develop- affected after birth. Deceleration of
Avent bottle system are suggested. ment of ataxic gait or loss of ambula- growth in height begins at 14 months
However, if a seal cannot be managed tion, usually around 4 years of age. [Schultz et al., 1993]. Although a retro-
then the need for direct external sup- Diagnostic criteria were defined in spective review of neonatal growth data
port to the cheek or suck pads is sug- 1988 and further refined in 2002 [Hag- of 120 females with RS with mutations
Dev Disabil Res Rev  FEEDING AND SWALLOWING DYSFUNCTION  BROWN ET AL. 153
on the MECP2 gene showed that [McLone and Dias, 2003]. Feeding of obesity. Children with MMC require
affected females tend to have a smaller problems due to ACM can present early less energy, particularly if they are
size at birth, with the median of head, in infancy, with poor oral feeding or nonambulatory [Roberts et al., 1991;
height, and weight in the 30th percen- aspiration. Other symptoms include Grogan and Ekvall, 1999; Littlewood
tile [Huppke et al., 2003]. Analysis of stridor, weakness in the upper extrem- et al., 2003; van den Berg-Emons et al.,
organ growth in a postmortem study ities, ataxia, and nystagmus [Hoffman 2003]. Overweight, in spite of de-
shows that thought brain weight is less et al., 1975; Dyste et al., 1989; McLone creased caloric intake has been shown
than expected for age and height, other and Dias, 2003]. Of the patients with in some studies. Grogan et al. in as
organs (heart, liver, spleen, and kidneys) symptomatic Chiari malformations 32% nutritional study on 14 children,
weights are appropriate size for height, present with manifestations of neuro- showed that in average, children with
but smaller for age [Armstrong et al., genic dysphagia [Pollack et al., 1992]. MMC consumed 51% of the Caloric
1999]. This also suggests that the poor In a prospective study of infants with Recommended Daily Allowances (RDA)
growth is not due to poor nutritional MMC with flexible fiberoptic laryngos- [Grogan and Ekvall, 1999]. In a nutri-
intake. Increased energy needs as the copy, Linder et al. found that 4 out of tional study on 100 patients, Fiore et al.
cause for the poor growth was ruled 22 children had dysphagia with aspira- [1998] found that the majority of well-
out by Motil et al. [1998]. Huppke tion; 3 of them had bilateral vocal fold nourished patients (48/55) were
et al. [2001] conducted an evaluation of motion impairment [Linder and Lind- consuming less than 80% or between 80
38 subjects with RS, he found no evi- holm, 1997]. Some children will require and 100% of recommended daily allow-
dence of thyroid hormones, estrogens gastrostomy tube placement to maintain ances (RDA) of energy while most
or growth hormone deficiency [Isaacs nutrition or prevent pulmonary aspira- overweight patients had an energy
et al., 2003]. As they grow older, nutri- tion [Fernbach and McLone, 1985; intake lower than their own RDA: 5
tional problems become more promi- Bowman et al., 2001]. Mortality is high below 80%, 25 between 80% and
nent, with 26% being classified as in subjects with abnormal respiratory 100%, and only 10 over 100%. The
severely malnourish [Reilly and Cass, function requiring tracheotomy correlation between physical activity
2001]. [McLone and Dias, 2003]. Some neuro- and overweight is not clear, some stud-
In summary, affected females with surgeons recommend posterior fossa ies found a positive correlation between
RS have poor growth. Gastrointestinal decompression on an emergency basis level of activity and obesity [Grogan
disorders and poor oral motors skills can as soon the patient shows any symptom and Ekvall, 1999] while others did not
contribute to poor nutrition, but the of Arnold-Chiari [Pollack et al., 1996]. [Fiore et al., 1998; van den Berg-
etiology of poor growth is not primarily Symptomatic ACM is the most com- Emons et al., 2003]. Besides the specific
due to poor oral intake or increased mon cause of death in children with health risks from obesity such as diabe-
need for energy. Some children will spina bifida. tes or increase cardiovascular disease,
need a gastrostomy to maintain nutri- obesity can also deteriorate their ability
tion. Abnormal swallow can increase Obesity to ambulate [Asher and Olson, 1983;
the risk of morbidity and mortality due Overweight is the most frequent Bartonek and Saraste, 2001].
to aspiration. nutritional disease in patients affected Other factors that can affect linear
by MMC. Prevalence of obesity ranges growth in children with spina bifida
MYELOMENINGOCELE from 29 to 50% depending on the mea- and hydrocephalus are endocrinologic
Myelomeningocele (MMC) and surement instruments [Van Den Berg- disorders such as growth hormone defi-
related neural tube defects are among Emons et al., 2003]. In children with ciency [Rotenstein and Breen, 1996;
the most frequent and complex malfor- spina bifida, the assessment of growth Satin-Smith et al., 1996; Trollmann
mations affecting children. Nutrition, requires different growth measurements et al., 1998; Hochhaus et al., 1999],
feeding, and growth and can be affected than those used with typical children. hyperthyroidism [Hochhaus et al.,
in multiple ways. Poor growth in the lower extremities, 1997], and precocious puberty [Meyer
along with orthopedic problems such as and Landau, 1984; Perrone et al., 1994;
Swallow hip dislocations, contractures, and scoli- Trollmann et al., 1996; Hochhaus et al.,
Arnold-Chiari II malformation osis make the measurement of length or 1997].
(ACM) consists of herniation of the height an inaccurate estimate of linear
tonsils and the contents of the posterior growth. The use of weight for height SUMMARY
fossa into the foramen magnum. This chart, or body mass index will overesti- Pierre Robin Sequence (PRS) is
herniation involves the brainstem, mate the number of children with over- a common craniofacial anomaly charac-
fourth ventricle, and cerebellar vermis. weight. Therefore, linear growth has to terized by micrognathia, glossoptosis,
ACM often interferes with the flow of be assessed by alternative measurements and a U-shaped cleft palate. Glossopto-
cerebral spinal fluid resulting in hydro- [Hochhaus et al., 1999]. The measure- sis places the infant at high risk for air-
cephalus. Ninety-five percent of chil- ment of arm span is a good alternative. way obstruction, choking, and aspira-
dren with open spina bifida have some Arm span has a good correlation with tion of liquid. Primary medical treat-
degree of Arnold-Chiari malformation. height, and can be plotted in the height ment is concerned with preventing
About 5–10% of the children with spina growth chart [Charney et al., 1981; airway obstruction and requires some
bifida present with symptoms related to Rosenblum et al., 1983; Rotenstein modifications of feeding techniques.
compression of the brainstem due to et al., 1995]. Other measurements such Not all infants with cleft lip and/
the ACM [Verhoef et al., 2004]. Com- as arm circumference and skin-fold can or cleft lip experience significant feed-
pression of the brainstem results in is- give an alternative estimation of nutri- ing difficulties. Feeding problems vary
chemia and hemorrhages, although tion [Hayes-Allen and Tring, 1973; from minimal for an infant with an iso-
some patients have abnormal anatomic Roberts et al., 1991; Mita et al., 1993]. lated cleft lip to infants with a cleft pal-
findings presumed to be congenital Several factors contribute for the risk ate who typically have significant diffi-
154 Dev Disabil Res Rev  FEEDING AND SWALLOWING DYSFUNCTION  BROWN ET AL.
culty developing the negative pressure tural differences that predispose them to appetite. Some patients have feeding
needed for nipple feeding. Nasopharyn- potential feeding problems. Coupled problems such as prolonged feeding
geal regurgitation may occur during with oral motor problems and frequent times (92%), lack of self-feeding skills
feeding an infant with a cleft palate. dental anomalies, the result is, though (92%), and poor oral motor control
Growth of all infants with cleft lip and usually minor, an increase in feeding (69%). Most females with RS are com-
palate should be monitored closely. problems. As a general rule, unless pletely dependent for eating (83.7%),
Breast feeding should always be an compromised by a severe co-morbidity, and only a very small number (1.2%)
option for infants with isolated cleft lip. i.e., severe congenital heart problems, are independent for eating. Many have
Cleft Lip/Palate Teams and Craniofacial feeding problems were minimal with esophageal and gastric dismotility
Teams consist of specialists who are pri- most Down syndrome children being (69%). As they grow older, nutritional
marily interested in the care of children totally independent feeders by early problems become more prominent,
who have clefts and other craniofacial childhood. Management of obesity with 26% being classified as severely
anomalies. Early feeding assessment and should be a top priority in adolescents malnourish with poor growth.
intervention is an important part of and young adults with Down syndrome Myelomeningocele (MMC) and
services offered by these healthcare and include early nutritional education, related neural tube defects are among
teams. weight monitoring, direct adult supervi- the most frequent and complex malfor-
Three disorders, DiGeorge syn- sion with severe food restriction, and mations affecting children. Nutrition,
drome, Velocardiofacial syndrome, and exercise. feeding, and growth and can be affected
conotruncal anomaly face syndrome, Children with William Syndrome in multiple ways. Ten percent of the
have been found to have a common typically have mild to moderate mental children with spina bifida present with
microdeletion of a section of chromo- retardation. They often have strengths symptoms related to compression of the
some 22, (22q11 deletion). Common in language and verbal short-term brainstem due to the ACM which can
features of 22q11 deletion syndrome memory, and weaknesses in visual- present early in infancy, with poor oral
include congenital heart disease, immu- spatial construction. Children with feeding or aspiration, ataxia, and nystag-
nodeficiency, hypocalcaemia, cleft lip Williams Syndrome are often described mus. Children with thoracic and high
and/or palate, other palate anomalies as overly friendly, hyperactive, inatten- lumbar defect, the sensory and motor
(submucous cleft, velopharyngeal tive, hypersensitive to loud sounds or innervations of the lower extremities are
incompetence), Pierre Robin Sequence, certain types of noises, and overly anx- impaired. The resulting lack of use and
speech disorders, otorhinolaryngologic ious with feeding problems being neuronal growth factors results in poor
issues, dysmorphic facies, renal anoma- behavior related. growth of the lower extremities. Over-
lies, skeletal anomalies, cognitive disabil- Inborn errors of metabolism can weight is the most frequent nutritional
ities, and behavioral and psychiatric dis- cause feeding problems. Many of the disease in patients affected by MMC.
orders. disorders have complicated and restric- Prevalence of obesity ranges from 29 to
Early feeding disorders are a com- tive diets. Some patients may rely on 50%. n
mon problem for a patient and family metabolic formulas for the majority of
with a 22q11 deletion syndrome. A ma- their nutrition. Lysosomal storage disor-
jority of patients have feeding difficul- ders in particular can cause feeding dis-
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