1. d i s a b i l i t y a n d r e h a b i l i t a t i o n , 2001 ; v o l . 23, n o . 3}4, 118± 128
Growth and nutrition in Rett syndrome
SHEENA REILLY‹ and HILARY CASSŒ
‹
Œ
Faculty of Health Sciences, La Trobe University and the Royal Children’s Hospital,
Melbourne, Australia
Great Ormond Street Hospital London, UK
Abstract
Purpose}Method : In this paper we review the existing literature
on factors that contribute to growth failure in Rett syndrome
(RS) with particular emphasis on the extent and nature of the
feeding di culties that arise. Data on growth and feeding
related problems, collected over four years in a specialized
clinic for females with Rett syndrome are presented and
management protocols developed in the clinic discussed.
Results}Conclusion : Feeding related problems and growth
failure occur commonly in Rett syndrome yet our understanding of the mechanisms causing growth failure are poorly
understood. Both nutritional and non-nutritional factors are
thought to contribute and it has not been possible to develop
e cacious intervention strategies. Consequently, clinical management of growth failure in Rett syndrome is not evidence
based.
Introduction
Rett Syndrome (RS) is diagnosed by observation and
clinical assessment using the criteria developed by the
Rett Syndrome Diagnostic Criteria Work Group."
Despite the recent discovery of the role of the MeCP2
gene in RS,# it is too early to know what proportion of
cases is attributable to this gene anomaly ; thus clinical
diagnosis is still essential. Although the necessary
diagnostic criteria are well recognized, a number of
supportive criteria also exist which include mention of
feeding problems and growth retardation. However these
tend to be less well recognized and are therefore often
neglected aspects of clinical care in RS.
In this paper we will discuss the factors that contribute
to growth failure in RS with particular emphasis on the
extent and nature of the feeding di culties that commonly arise. Data from 4 years’ experience in a multidisciplinary Rett Therapy Clinic in the UK will be
presented followed by two case histories which will
illustrate the multiple and complex basis of growth
failure in this population. We also outline the dysphagia
protocols developed in the clinic and their importance in
monitoring growth and feeding in RS.
* Author for correspondence ; e-mail : s.reilly!latrobe.edu.au
f a c t o r s c o n t r ib u t in g t o g r o w t h f a il u r e in r e t t
sy n d r o m e
The aetiology of growth retardation in RS is complex.
Whilst somatic growth retardation has been well documented, many females meet the criteria for moderate to
severe malnutrition.$ Unfortunately, there has been
limited discussion of the many factors which either
individually or in combination might aΠgrowth in
ect
RS. The exception is the widely discussed deceleration in
head growth. Schultz et al. noted that deceleration of
head growth, followed by deceleration of weight and
height measurements begins as early as 3 months of age
and persists throughout childhood.% They concluded that
this pattern of growth might provide the earliest clinical
indicator for the diagnosis of RS. Thomessan and
colleagues & described similar ® ndings with a fall oŒin
linear growth in the ® rst few years of life ; none of the
girls studied had height or weight for height above the
2nd centile. Leonard et al.’ recorded weight and height in
51 girls aged between 3 and 16 years and calculated a
Quetelet Body Mass Index. Girls diagnosed as having
classical RS were found to have lower mean BMI (SD :
® 1.96) than girls with atypical RS (SD : ® 0.83).
What factors might account for these poor growth
patterns ? Both nutritional and non-nutritiona l (sex, age,
disease severity, cognitive impairment and ambulatory
status) factors contribute to growth failure in children
with similar levels of physical disability (e.g. cerebral
palsy) and it is likely that similar mechanisms will apply
in RS. Nutritional problems may result from abnormalities of the digestive tract, leading to dysphagia and
thus to reduced intake. Additionally alterations in energy
balance may exacerbate reduced calorie intake. The
clinical basis for these suggestions will be reviewed in
turn.
Abnormalities of the digestive tract
Gastrointestinal problems in RS may occur at any
stage from preparation of food within the oral cavity (the
Disability and Rehabilitatio n ISSN 0963± 8288 print}ISSN 1464± 5165 online # 2001 Taylor & Francis Ltd
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2. Growth and nutrition in Rett syndrome
Table 1
Feeding problems in 60 females with RS)
Oral stage : oral motor dysfunction
Oral-pharyngeal stage
Oesophageal stage
(n ¯
(n ¯
(n ¯
25)
12)
9)
41 %
20 %
15 %
oral phase) to elimination. In Rett syndrome, disruption
of swallowing may occur at any stage causing signi® cant
impairment of the eating and drinking process and
resulting in dysphagia. Throughout this paper the term
`dysphagia ’ will be used to describe disorders of
swallowing that may occur in the oral, pharyngeal or
oesophageal stage. The consequences of dysphagia for
both females with Rett syndrome and their carers are
widespread and aΠgeneral health, development and
ect
well being. In addition, such problems create an
additional burden for the family. For example, carers
may need to spend inordinate amounts of time feeding
their child.
Oral and pharyngeal function
Although feeding has been reported as problematic in
RS by a number of researchers,(± "! there have been no
systematic studies of the exact nature of these di culties.
The existing studies should be interpreted with caution as
they usually involve small clinical or volunteer samples.
Budden( described abnormal chewing associated with
tongue thrusting and involuntary, undulating tongue
movements in 11 of the 13 girls she studied. Feeding
problems were characterized by di culty chewing and
swallowing foods with associated coughing and regurgitation. In a later series of 20 girls who ranged in age
from 3 years 11 months to 19 years 4 months, Budden
and colleagues) related oral motor function to the four
main stages associated with RS (see Ellaway and
Christodoulou, this issue). Changes in oral motor tone,
from hypotonicity in stages I and III to hypertonicity
in stage IV, were reported. Altered oral tonicity was
thought to be directly related to postural tone, which
presumably also changed with progression through the
four stages. Tongue deviation (to the left) was noted in
almost all females in stages III and IV and three girls in
stage IV also showed fasiculation of the tongue both at
rest and during active movement. Nineteen of the girls
were fed orally (one child was fed by gastrostomy tube),
but all required a diet of soft or pureed foods because of
the di culties they experienced chewing food eŒ
ectively.
More recently Budden"" described a much larger clinical
series of 60 individuals with RS with particular emphasis
on the management of feeding di culties, communi-
cation needs, hand function, scoliosis and deformities.
Feeding problems were reported in 82 % of the cases seen
in the clinic (n ¯ 49) and the data is classi® ed in table 1.
Oesophageal problems in this group usually refer to
gastro-oesophagea l re¯ ux or the spontaneous return of
the gastric contents into the oesophagus. Gastric contents may be re¯ uxed into the pharynx and cause
regurgitation and}or vomiting.
Nine of the girls (15 % ) were being fed by gastrostomy,
the reasons given included severe gastro-oesophagea l
re¯ ux (n ¯ 5), swallowing problems (n ¯ 2) and growth
failure in the absence of oral motor and }or oral
pharyngeal dysfunction (n ¯ 2). Witt-Engerstrom"! described similar di culties, but also commented on the
presence of profuse drooling and an inability to close the
mouth during swallowing.
Morton and colleagues* used a diŒ
erent approach and
classi® cation system to study feeding di culties in 20
females with RS who presented to a specialist-feeding
clinic because their carers were concerned about feeding
problems. The subjects, aged between 1.5 and 33 years,
were classi® ed according to muscle tone subtypes as
described by Kerr."# These subtypes are : subtype 1 Ð
predominant hypotonia, non-ambulant, young ; subtype
2 Ð normal tone, ambulant ; subtype 3 Ð dystonia,
mainly ambulant ; and subtype 4 Ð marked rigidity with
® xed deformities, non ambulant. As well as taking a
detailed feeding history and performing a clinical
examination, a mealtime was observed in the clinic and
video¯ uroscopic examination of the swallow performed.
This involved the administration of both a liquid and
solid texture (Weetabix impregnated with barium) being
fed to each individual in the x-ray department. Numerous
ratings were made of diŒ
erent aspects of feeding
including the carer’s reports of di culties, oral and
pharyngeal function during video¯ uroscopy and chewing
scores. Not surprisingly all carers reported some degree
of di culty with feeding ; in nine individuals this was
reported to be mild, de® ned as the main meal taking less
than 15 minutes with food requiring some modi® cation
(e.g. solids foods required mashing). Six carers reported
that the problems were moderate (mealtimes taking
between 15 and 30 minutes) and ® ve carers said the
problems were severe (mealtimes taking more than 30
minutes).
An interesting ® nding in this study was that three of
the females (aged 4, 6 and 23 years) had con® rmed
aspiration on video¯ uroscopy. These subjects also scored
the highest on frequency of chest infections (more than
three chest infections requiring antibiotics in the past 12
months) and were rated as being most di cult to feed on
the carer’ s di culty scale. In contrast, no other individual
119

3. S. Reilly and H. Cass
was aspirating nor did they experience such frequent
chest infections requiring antibiotics. There were a
number of other indices which suggest that these three
subjects were in the most severe range, including the fact
that they were all non-ambulant and tended to be
amongst the most poorly grown in the sample (weight for
height as a percentage of the 50th centile for age ranged
from 45 to 74).
As well as reporting detailed data regarding speci® c
aspects of oral and pharyngeal function, Morton and
colleagues * suggest that their results are indicative of
regression in oral skills leading to increased impairment
of chewing ability in older females. In a separate study
the same authors found that the time taken to swallow
appeared to increase with age."$
Oesophageal function
The prevalence of gastro-oesophagea l re¯ ux (GOR) in
girls with RS is unknown, although it is mentioned as
problematic by a number of authors. Witt-Engerstrom"!
reported that vomiting was common, particularly in
those girls in stage three. Fifteen percent of girls in the
sample described by Budden"" had gastro-oesophagea l
re¯ ux, although it is not clear if this had been con® rmed
by investigation or on the basis of clinical symptomatology.
Bowel function
Constipation is one of the most commonly presenting
clinical problems which may aΠas many as 85 % of
ect
females,"% but is not thought to be associated with
neuronal dropout in the colon."& Presumably the causes
of constipation in RS are multi-factorial (e.g. lack of
physical activity, poor muscle tone, diet, drugs, inadequate liquid intake, scoliosis etc.) as is the case with
other children with multiple and complex disabilities.
Reduced intake
In one of the few studies to date to examine actual
intake, Thommessen and colleagues& found that the
mean energy intake of the girls (n ¯ 10) they studied was
66.9 % of the US recommendations according to age and
107.8 % of the recommendations according to body
weight. Intakes of thiamin, vitamin D, calcium and iron
were also considered low but none were found to be
anaemic. These feeding problems have serious consequences for children’s growth, their nutrition and
physical health (including bone quality), and for the
psychological well being of parents. Only 13 % of RS
cases did not show some radiological evidence of
120
osteopenia ; the incidence of fractures would appear to be
signi® cantly higher than in the general population.’
Alterations in energy balance
Clinicians have hypothesized that alterations in energy
balance might account for growth failure in RS girls.
Many girls reputedly have large, healthy appetites yet
remain malnourished. In addition, behaviours such as
repetitive hand stereotypies, rocking motions of the
upper body and breathing irregularities occur commonly ;
in one study 66 % of parents said their daughter had
unusual breathing ; 44 % described hyperventilation and
breath holding, 34 % hyperventilation alone and 17 %
breath holding alone.’ These behaviours were more
common in girls with classical RS compared to atypical
RS. Constant hand wringing and hand to mouth activity
(which can persist in some girls throughout their waking
hours) can be particularly problematic causing skin
excoriation.
Motil and colleagues"’± "( carried out two studies in an
attempt to better understand metabolic rates in RS. In
the ® rst they found that metabolic rates while sleeping
and quietly awake, were lower (by 23 % ) in RS girls as
compared to healthy controls, although metabolic rates
while actively awake did not diΠbetween the groups.
er
However, because of the 2.4-fold greater time spent in
involuntary motor movement, energy expenditure associated with activity was twofold greater in RS girls than in
controls. Although total daily energy expenditure of the
two groups did not diŒ signi® cantly, energy balance
er
was less positive in RS girls than in the controls. The
authors concluded that this small diŒ
erence in energy
balance, if sustained over months to years, might be
su cient to account for growth failure in RS.
However, in the second study Motil et al. (1998 ) found
that increased total daily energy expenditure (TDEE) did
not diŒ signi® cantly between girls with RS and healthy
er
girls. "( Despite the fact that girls with RS spent more
waking hours in physical activity than their healthy
counterparts (85 % 10 % vs 73 % 11 % awake time
per day), their repetitive movements were not su ciently
intense to increase TDEE. Lean body mass, but not body
fat, was signi® cantly less in girls with RS, which Motil
and colleagues thought contributed to their lower
absolute TDEE in comparison with that of healthy girls
(845 251 vs 1453 534 kcal}day).
In contrast, a number of interesting factors emerged
from a recent study’ which found that the presence of a
breathing disorder and ambulatory status (whether the
child had walked or not) aŒ
ected BMI whereas level of
feeding skill and hand stereotypy did not. When these

4. Growth and nutrition in Rett syndrome
three variables were all included in a multivariate
analysis, each remained independently signi® cant.
There are a number of problems in interpreting the
existing studies which have attempted to investigate
altered energy balance as a possible cause for growth
failure in RS. First the studies have compared females
with RS to healthy, able-bodied controls. It is not
surprising that no diŒ
erences were found, as the activity
levels in a profoundly and multiply handicapped girl
with RS must be qualitatively diŒ
erent from a healthy
active control. However, would they diΠfrom other
er
females with equally profound physical and cognitive
impairment ? Second, adequate measures of activity
levels in RS have not been made. In the main, researchers
have relied on parental descriptions and questionnaires
and occasionally, observational techniques have been
used. Third, the full range of activity or behaviour that
might occur (e.g. respiratory irregularities, hand stereotypies, body movements, ambulatory status) has also not
been taken into account.
d a t a f r o m
a m u l t i -d i s c i p l i n a r y c l i n i c
We have highlighted some of the multiple and complex
problems relating to feeding and nutrition in RS. There
is no doubt that these problems require the skills of many
diŒ
erent professionals both for assessment and management advice. In addition, because RS is a low
prevalence condition, there is almost inevitably limited
expertise available in the community. Internationally, a
multi-disciplinary team model has been recommended
and adopted as the ideal method for managing the
multiple, complex and often interrelated issues (e.g.
nutritional, orthopaedic, neurological, behavioural ) that
arise in RS. A number of teams spread around the globe
(e.g. Sweden, USA) are now well known for the multidisciplinary nature of their work. With these considerations in mind, the authors together with their
colleagues started a Rett Therapy Clinic based within a
diagnostic and assessment unit just outside London in
the UK.
The Rett Clinic team consisted of a music therapist,
speech and language therapist, occupational therapist,
physiotherapist and paediatrician, all of whom have
previously worked individually with patients with Rett
syndrome, in a clinical and}or a research capacity. The
clinic followed a consistent format, but the procedures
were dictated to a large extent by the individual girl’s
needs and the questions posed by their carers}families.
Each session began with an interview to elicit medical
background, con® rm diagnosis (if necessary ) and identify
Table 2
Sample characteristics
Number ( % )
Scoliosis identi® ed
Type
Mobile scoliosis
Fixed scoliosis
Epilepsy*
Mobility rating
Independent**
Assisted walking
Immobile
Self-feeding
Independent***
Assisted
Dependent
Cognitive function
Make a choice"
Eye point#
Speech$
51 (86 .4)
20 (33 .9)
31 (52. 5)
37 (62. 7)
20 (37 .3)
18 (30 .5)
21 (35 .5)
2 (3.4)
22 (37 .3)
35 (59 .3)
30 (50 .8)
40 (67 .8)
8 (13 .6)
* De® nite evidence of seizure activity.
** The ability to walk without assistance.
*** Can self feed with either ® ngers or a utensil such as a spoon
" The ability to select food, desired object etc. from array presented
(usually from no more than two).
# Uses eyes, eye gaze to indicate what is wanted, get attention etc.
$ Uses words (in the majority of subjects, single word use) but not
necessarily in context.
current management concerns. Concerns expressed by
both the referrer and the families were recorded. As well
as multi-disciplinary assessment, the combination of
therapists allowed for multi-disciplinary advice. A
written report detailing team recommendations was sent
to the family and other professionals involved. In
addition, the assessment and discussion were video
taped, and a copy made available to the parents. Local
therapists were encouraged to attend the clinic with the
family, but where this was not possible we attempted
to follow up with telephone contact.
Over a 5 year period, 100 females with a diagnosis of
RS were referred to the clinic. The main referral sources
were family doctors (49.2 % ) and paediatricians (44.1 % ).
In a retrospective, descriptive study we explored feeding
di culties in a sub-sample of 59 females aged between 2
years 1 month and 44 years and 9 months (Mean : 12.6
years SD 11.04 years). Information about growth (e.g.
weight and height), nutrition (e.g. appetite, dietary
intake), feeding ability (e.g. oral, pharyngeal and
oesophageal control), feeding dependency (e.g. ability to
self-feed) and other feeding related issues (e.g. constipation, respiration ) was systematically recorded on a
subset of females attending the clinic during an 18 month
period.
The sample characteristics shown in table 2 indicate
121

5. S. Reilly and H. Cass
Cumulative number of impairments
Sum of impairments
5
26
4
20
3
8
2
4
1
1
0
5
10
15
Proportion
20
25
30
Figure 1 Sum of impairments (epilepsy, immobility, feeding dependency and scoliosis).
the multiple and complex nature of the impairments
found in RS. Eighty-six percent of the females had a
scoliosis (either ® xed or mobile) and 62 .7 % had epilepsy.
Although 37.3 % of the girls were rated as independently
mobile, this does not imply that they were able to walk
long distances or cope on a variety of walking surfaces,
rather that for daily activities they were able to move
around the room or from room to room.
Just two of the females were able to feed independently, one using a spoon and one with her ® ngers.
All of the girls had profound cognitive impairments, the
highest evidence of skill level being their ability to make
choices, usually using eye gaze. Although some of the
girls did have words and some used phrases and short
sentences, there was little evidence that these were used in
context. Instead the words, phrases and sentences
appeared to be used out of context (this was con® rmed
by most parents) and sometimes in a repetitive fashion.
We summed the main impairments (epilepsy, immobility, feeding dependency and scoliosis) and these
results are shown in ® gure 1. These data show that
91.5 % of the sample had two or more impairments,
which is indicative of the disabling nature of RS.
During the initial interview parents were asked to
identify their main problems in caring for their daughters.
Just over half (52.5 % ) indicated that they were experiencing some feeding related di culty and 27 % had
received some previous help with feeding problems. All
of the girls were being fed orally and none had a history
of non-oral feeding. Almost all (83 % ) were described as
having an excellent appetite, a ® nding reported previously by other researchers.&
Oral motor skills were assessed using the screening
version of the Schedule for Oral Motor Assessment
122
Figure 2 Weight (SD scores) for a subsample of girls (n ¯
correlated with age.
27)
(SOMA). "), "* The SOMA entails the standarized presentation of a variety of tastes and textures Ð puree (e.g.
;
yoghurt ) semi-solids (e.g. baked beans), solids (e.g. ® rm
pieces of fruit or potato ) and liquids (drinking from a
cup). Ratings, made subsequently from video recordings,
enabled the categorization of oral-motor function as
normal, or as abnormal. A total abnormality score
summed across each of the four textures was computed.
Scoring decisions are fully explained in the SOMA
scoring manual#! and in previous publications."), "*
Twenty-one females (36 % ) had either no oral motor
problems or mild impairment and were able to manage a
normal adult diet containing a range of tastes and
textures. Those with mild oral motor impairment
required some monitoring of their diet usually because
they had di cult managing foods which required
chewing such as meat or an apple, although they may
have been able to manage these textures if the food was
® nely chopped or specially prepared. Thirty eight females
(64 % ) had moderate to severe oral motor dysfunction
as indicated by SOMA. These di culties resulted in an
inability to manage a full diet and, for some, subsistence
on a liquid or smooth, pureed diet. Such severe oral
motor impairment has been shown to contribute to a
compromised nutritional intake and subsequent growth
failure in children with similar levels of di culty such as
cerebral palsy.
We analysed anthropometri c data from 27 of the
subjects aged between 3 and 16 years. Of the remaining
cases 16 were females older than 16 years of age and we
had incomplete and unreliable data on the remaining 16
subjects who were therefore not included in the analysis.

6. Growth and nutrition in Rett syndrome
The mean weight of the group (n ¯ 27) was ® 2.98
standard deviations below the population mean (SD 3.9
range ® 13.86± 3.53). Of these, 26 % were classi® ed as
severely malnourished with weight more than 4 standard
deviations below the population mean (range : ® 4 to
® 15 standard deviations). There was a signi® cant correlation between age and weight : the older girls were
steadily falling away from the population mean and
subsequently growing very poorly (see ® gure 2). Interestingly, none of the younger girls (less than 4 years of
age) were more than 2 standard deviations below the
population mean (n ¯ 7) suggesting that girls with RS
are more likely to fail to thrive as they grow older.
However, unlike cerebral palsy where a direct correlation between the severity of the oral motor de® cit and
growth outcome was identi® ed, in RS there was no such
correlation. #" That is, some girls with normal oral motor
control were also growing very poorly.
c a s e h is t o r ie s
Patricia
Patricia aged 30 years, was referred to the Rett Clinic
because of concerns abut the management of her
epilepsy, mood swings, posture and severe constipation.
She was totally dependent, requiring 24 hour support
from a team of care workers. Feeding was not considered
problematic by Patricia’ s carers or her parents. Appetite
was said to have decreased recently and this was thought
to be related to her mood swings and emotional
behaviour and constipation. During the preceding 12
months Patricia had refused to eat on two occasions for
up to 7 days, but did continue to drink during this time.
Her carers did attempt to supplement her intake with a
number of liquid dietary supplements with mixed success.
Although Patricia almost always ate breakfast and lunch
she inevitably refused an evening meal. She drank from
an adapted cup or from a straw.
Patricia’ s mood swings were thought to be associated
with pain and discomfort on being moved or manipulated, seating posture and constipation. Bowel management consisted of lactulose (15 ml twice daily),
Fybogel and suppositories as required. Patricia’ s general
health was reportedly good with no increase in upper
respiratory tract infections. Recent blood tests were
normal. Patricia’s other medications included an anticonvulsant (cabamazepine 400 mg mane, 200 mg nocte)
although she had been ® t free since the age of 14. She had
also been taking baclofen for several years.
Physical examination was di cult and limited due to
Patricia’s marked asymmetrical posture both in lying
and in sitting, such that when placed in supine she was
unable to conform to the surface of the bed. She was
known to experience acute pain on handling and was
found to have a dislocated left hip with ® xed contractures
at the right hip, knees and ankles. During the examination it became clear that Patricia was very underweight. However, we were unable to accurately weigh
and measure her because of her extreme discomfort, and
the severity of her contractures made any estimate of
linear growth impossible. We did however obtain
information from Patricia’s records over the preceding
year, which indicated a steady weight loss amounting to
12 kilograms over a period of 9 months.
Two long-standing pressure areas were noted on her
left and right foot as well as more recent reddened
broken area on the left elbow and left shoulder. Patricia
had been provided with some adaptive seating, but her
asymmetry in sitting was such that if she was sat with her
head balanced over her shoulder girdle, she was in fact
looking to her left due to the extent of her forward
rotation. As a result she spent the majority of her time in
sitting turning to look over her right shoulder in order to
maintain forward gaze.
Patricia was in a poor nutritional state. Her steady
weight loss over a period of 9 months was of grave
concern. In the short term we recommended an urgent
referral to a dietician for advice regarding immediate
nutritional supplementation via high-energy supplements. We also discussed with Patricia’ s carers the need
to consider supplementary tube feeding (either by n}g
tube in the short term or gastrostom y in the long term)
if she continued to loose weight despite supplementation.
A number of other recommendations regarding management of Patricia’s constipation were also made
including abdominal massage and regular sitting on
the toilet. Patricia’ s pressure sores and pressure areas
required immediate management and regular monitoring
by her family doctor.
There was some follow through of the recommendations made, particularly those relating to management of
the constipation. However, Patricia continued to lose
weight and 5 months later was admitted to hospital with
reduced appetite, bedsores, cellulitis and oral candida
with refusal to both eat and drink. Endoscopy was
performed and she was found to have gastritis for which
treatment was instigated. Gastrostomy feeding was
strongly recommended by the investigating medical
team. A telephone follow-up revealed that Patricia did
eventually have a gastrostomy inserted and her parents
were very pleased with the outcome. She continues to
feed orally and receives supplementary feeds via her
gastrostomy. She is reported to be in excellent health and
123

7. S. Reilly and H. Cass
has had no further recurrence of pressure sores or
pressure areas.
Sally
Sally, aged 25 months, had only recently been
diagnosed as having RS and her parents were concerned
to gather as much information as possible about her
likely future development. She was referred to the Rett
Clinic because of concerns regarding her feeding, seating
and development of her hand skills. Her general health
was good and she has not had any major illnesses.
Seizures began at 10 months, mostly with fever, but she
had never received anticonvulsants and had not had any
seizures for the past 3 months.
When ® rst seen Sally was eating a specially prepared
diet of ® nely chopped foods and was unable to chew
meats or manage dry foods. She tended to store food in
her mouth and often choked on lumpy foods. Sally
dribbled profusely and would lose a considerable
amount of food when eating and liquid when drinking.
Mealtimes were prolonged, taking up to 90 minutes,
depending on the food texture and the number of
coughing and choking episodes. Vomiting occurred
occasionally but was not felt to be problematic. Food
and liquid were often nasally regurgitated and Sally’s
parents felt this had worsened recently.
Sally gained weight slowly (over the previous 12± 14
months she has gained just 1.6 kg’s) and at times had lost
weight. She had been referred to a dietician for advice,
but was not taking any supplements. She was said to
have an excellent appetite and to communicate hunger
by making a particular noise. Sally’s mother commented
that she found it di cult to know when she was satiated,
as she always seemed hungry.
Sally was not ambulant but could sit independently
both on the ¯ oor and on a stool. Her posture was
kyphotic and a postural scoliosis was already evident as
well as shoulder protraction and elevation. She spent
much of her time either mouthing, clasping or wringing
her hands. Her weight was 9.5 kg’s at 24 months (! 3rd
centile). Sally was able to manage purees and semi-solids
(soft lumps). Although she had a good range of oral
motor movements (e.g. lateral tongue and lateral and
rotary jaw movements ) these were very poorly integrated
and she was unable to chew food. She breathed through
her mouth, which caused some incoordination especially
when drinking. Sally’ s posture when eating and drinking
was unstable.
Sally was in a reasonable nutritional state but her
weight had fallen below the third centile and required
monitoring. We recommended that Sally should see a
124
dietician regularly and that supplements be added to her
diet. We also recommended that the frequency of
vomiting and nasal regurgitation be kept under review
and investigations for possible gastro-oesophagea l re¯ ux
be undertaken if necessary. A seating review was instigated to develop stability and provide a good working
base for eating and playing.
Sally was seen again for a review appointment at the
request of her parents when aged 4 years and 11 months.
They were concerned at her poor weight gain, the
prolonged duration of her mealtimes, frequent eye
infections and increasing discomfort when eating and
drinking. Sally had recurrent super® cial eye infections
(blepharitis and a series of cystic lesions on the external
lid margins) which her parents thought started after an
episode of herpes stomatitis. She had also suŒ
ered from
occasional fevers with no clear focus. Although she had
had no chest infections she was said to sound increasingly
`chesty ’ with excessive secretions in the pharyngeal area
and production of thick frothy mucous. No increase in
vomiting or regurgitation was reported but the family did
take elaborate precautions to carefully position Sally
after meals. Sally was said to tense up in pain in a foetal
position for periods of up to 20 minutes and appear to
be distressed ; these were sometimes associated with
mealtimes and increased hand to mouth activity. Mealtimes continued to be prolonged (60 minutes). Despite
supplementation Sally’s weight was 12.7 kg’ s, indicating
a gain of just 3.2 kg’ s in almost 3 years.
Although Sally had been provided with dietary
supplementation no health professional had continued
to monitor her growth during this time. Her nutritional
state on examination was poor and this was thought to
be the most likely cause of her recurrent eye infections. It
became clear that Sally might well have gastro-oesophageal re¯ ux, which had unfortunately not been
investigated despite our earlier recommendations. In the
short term we recommended that 24 pH monitoring be
undertaken as well as some baseline blood tests to check
immune function, blood count and other indices of
nutritional status. We discussed with Sally’ s parents the
need to consider supplementary tube feeding (either by
n}g tube in the short term or gastrostomy in the long
term) if she continued to fail to gain weight satisfactorily
despite supplementation.
Telephone follow-up revealed that because Sally
continued to loose weight and experience frequent chest
infections, a gastrostomy was inserted, although she also
continued to feed orally. Positive health outcomes were
reported by her parents. Sally had rapidly and steadily
gained weight and she had not had any further chest or
eye infections.

8. Growth and nutrition in Rett syndrome
Figure 3
Multi-factorial nature of feeding problems in RS.
g u id e l in e s f o r f e e d in g a n d n u t r it io n a l
m a n a g e m e n t
There are four principles for the successful management of feeding and nutritional problems in individuals with RS. These are based on the management of
children with other motor problems such as cerebral
palsy.## They include a comprehensive assessment, adopting a problem solving approach, assess and manage
dysphagia within the context of the child’s other
problems and discuss and agree management regimes
with parents}carers, other professionals.
It is beyond the scope of this paper to discuss these
principles in detail. They are, however, important as the
problems that present in clinic are complex and they
intersect a number of specialist areas and disciplines (e.g.
orthopaedic surgeon, speech pathologist, physiotherapist). Furthermore, the management strategies adopted
are almost always dependent on other aspects of the
child’s function (e.g. the relationship between oral motor
function and postural control).
Feeding
Early identi® cation and management of the complex
feeding problems that present in females with RS is
essential. However, there is some evidence of deterioration in growth#$ and evidence of change in oral motor
skill level with increasing age.* This deterioration may
well be linked to postural status, just as it is in other
conditions such as cerebral palsy. There is no doubt that
the aetiology of feeding problems in RS is complex and
multi-factorial as illustrated in ® gure 3. All of these
factors should be taken into account when managing
females with RS across the age span.
Figure 4 Decision-making : considering the safety and adequacy of
oral feeding in RS.
Where oropharyngea l skills are dysfunctional to such
an extent that an individual is unable to safely achieve an
adequate nutritional intake via oral means, alternative
methods of feeding should be considered (see ® gure 4).
Safe feeding presumes that the child is not at risk of
aspiration or penetration of material into the airway
during eating and drinking. In determining the safety of
oral feeding information is collected from a number of
sources including :
E
E
E
E
E
Case history (e.g. history and frequency of chest
infections),
Medical examination (e.g. auscultation of the chest
before, during and after feeding and examination of
the respiratory system),
Swallow investigations (e.g. video¯ uroscopic examination of the swallow mechanism where indicated),
Baseline investigations of the respiratory system (e.g.
chest x-ray); and
Further investigations of respiratory function (e.g.
lung scans).
For further information readers are referred to a recent
publication, ## which details protocols for managing
unsafe feeding. Indications for the instigation of nonoral feeding include:
E
E
Inability to consume adequate calories orally to meet
energy requirements ;
Evidence of ongoing aspiration during oral feeding ;
125

9. S. Reilly and H. Cass
E
E
E
E
E
E
Oral feeding is stressful for either the carer or the child
or both ;
Mealtimes are protracted leaving limited time for
other daily activities ;
Oral supplementation of the diet has failed ;
Chronic food}liquid refusal or aversive behaviour has
developed ;
Oral intake is erratic; and
A safe route for regular medication (e.g. anticonvulsants ) is required.
Individuals with less severe oral and pharyngeal involvement may bene® t from a variety of other therapeutic techniques such as, optimizing posture and
seating, manipulation of texture, change of utensil,
alteration of the pacing of feeding and advice regarding
self-feeding.
Health professionals need to be aware that gastrooesophageal re¯ ux tends to occur more commonly in
children with motor problems (for example, RS and
cerebral palsy). Children with profound intellectual
disability and motor problems cannot always alert their
carers to the fact that they are in pain or uncomfortabl e
and they will almost certainly not be able to isolate the
source of pain. For these reasons, it is important to alert
carers to the increased prevalence of GOR in RS and to
inform them of any potential signs and symptoms that
might indicate the presence of GOR. GOR may of
course be present in the absence of any ongoing vomiting
and regurgitation and therefore not readily identi® ed.
Management of GOR should be done in consultation
with a paediatrician and}or gastroenterologist . A phased
therapeutic approach to the management of GOR is
usually recommended for children with motor problems.#% Three phases are outlined : in phase one attention
is given to position, dietary advice and thickening agents.
Traditionally thickening feeds and the maintenance of an
upright position after feeds have been encouraged,
however these are no longer thought to be eŒ
ective in
children with neurological disorder. Medical management via the use of antacids, such as gaviscon, to
neutralise the gastric acid and Sucralfate to protect the
mucosa may be added.
In phase two, prokinetic agents, such as cisapride,
which aim to increase the tone of the lower oesophageal
sphincter and enhance gastric emptying may also be
added and H# receptor blockers and proton pump
inhibitors may also be given for persistent problems. The
outcome for medical management of GOR in children
with neurological problems has been less rigorously
evaluated but is known to be less eŒ
ective than in normal
126
children. Surgical management (e.g. fundoplication ) may
therefore need to be considered.
Anthropometry
The assessment of the nutritional status of the
individual with RS serves as a guide to nutritional
intervention. Routine and regular monitoring of growth
parameters including weight, height (substitute measures, for example, lower leg measurements ) may be
necessary in females with postural deformities and in
those who have undergone spinal surgery. Routine
monitoring should continue throughout the life span as
illustrated by our case studies. Failure to do so may not
only result in the presentation of an acute problem but
results in no baseline data being available to assess
individual growth patterns. This is essential, but too
often absent, diagnostic information. Indicators for early
nutritional intervention include : height-for-ag e and
weight-for-height or -age Z-scores more than 2 SD below
the mean for age, height-for-ag e measurements less than
95 % of expected, weight-for-height measurements less
than 90 % or greater than 120 % of expected and height
velocities less than 5 cm }year after 2 years of age.
Nutritional supplementatio n
Nutritional management of females with RS has been
a neglected aspect of their care. In many cases it is clear
that under nutrition contributes to poor growth. However,
in RS there are other factors throughout to aΠgrowth
ect
outcome ; the mechanisms are not well understood.
However, malnutrition is correctable. Nutritional therapy should be an integral part of the comprehensive care
and rehabilitation aiming not only to improve weight
and linear growth, but to improve physiological and
functional capacity. Very little is known about the
speci® c nutrient requirements of individuals with RS.
Caloric requirements are usually estimated from Recommended Daily Allowances (RDA’s). However, RDA’s
assume normal levels of activity and are therefore not
necessarily appropriate for children with complex and
multiple disabilities.
A variety of methods are used to calculate energy
requirements in the child with complex and multiple
disabilities and it is beyond the scope of this paper to
review them. However, as a rule of thumb clinicians
recommend that energy requirements be based on the
RDA for height age or weight at the 25th percentile
weight for height. Others recommend determining basal

10. Growth and nutrition in Rett syndrome
metabolic rates which are corrected for activity levels,
such as the World Health Organization (WHO 1985 )
formulas which allow for more individualized prediction
based on gender, age and body weight as well as
accounting for activity levels. Krick#& developed a
factorial approach based on estimating resting energy
expenditure needs, muscle tone alterations, normal
growth needs and catch up growth or nutritional
repletion in malnourished children.
Whichever approach is used it is crucial that a
paediatric dietician experienced in the management of
children with multiple and complex needs be part of
the team to evaluate and establish nutritional plans for
each child. Monitoring these plans is of vital importance
to ensure those children reach the expected growth
targets. However, in the case of some children, particularly those children who are gastrostom y fed, it may
be necessary to ensure that they do not exceed weight
targets. For some females with RS the dietary intake can
be supplemented naturally through the use of high energy
and high ® bre foods. However, for others this is not
possible and supplementation with commercial products
is necessary. This should always be in consultation with
and on the advice of an experienced paediatric dietician.
Acknowledgements
We would like to acknowledge the other members of the multidisciplinary Rett clinic team and the families and children. This work
was supported by, and undertaken at Harper House Children’s Centre,
Horizon NHS Trust, Radlett, Hertfordshire. United Kingdom.
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1
2
3
4
5
6
7
8
9
Conclusions
10
The management of feeding problems and nutrition in
RS is of great importance but it is also a challenge.
Asaro #’ states that :
11
Nutrition represents one of the most important
aspects of treatment in RS. It is the cornerstone by
which all other forms of therapies are made
possible.
12
13
14
15
The challenge is made harder by our limited knowledge
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