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AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.) 89:62–74 (1999)
A R T I C L E
Measuring Functional Status in Children With
Genetic Impairments
MICHAEL E. MSALL*
AND
MICHELLE R. TREMONT
One of the consequences of genetic impairments in early childhood is their long-term effect on children’s
developmental skills in communication, learning, and adaptive behaviors. Functional assessment provides
families and clinicians with a common language for describing a child’s strengths and limitations in self-care
(feeding, dressing, grooming, bathing, continence), mobility, and communication/social cognition. The
National Center for Medical Rehabilitation Research described a model of disablement that includes five
dimensions: pathophysiology, impairment, functional limitations, disability, and societal limitations. Using
this framework, along with the Functional Independence Measure for children, the WeeFIM姞, we describe
functional strengths and challenges in children with Down syndrome, spina bifida, congenital limb anomalies, congenital heart disease, urea cycle disorders, severe multiple developmental disabilities, and DiGeorge malformation sequence. We also briefly describe several pediatric functional/adaptive assessment
instruments used by developmental professionals (Battelle Developmental Inventory, Vineland Adaptive
Behavior Scales, Amount of Assistance Questionnaire). By tracking functional status, health professionals
can prioritize secondary and tertiary prevention strategies that optimize self-care, mobility, communication, and learning. When functional limitations interfere with the acquisition of these essential skills, family
and community support programs can be maximized. Am. J. Med. Genet. (Semin. Med. Genet.) 89:62–74,
1999. 䊚 1999 Wiley-Liss, Inc.
KEY WORDS: functional assessment; genetic disabilities; developmental outcomes; Down syndrome; spina bifida; limb malformations; family supports; inborn errors of metabolism
INTRODUCTION
One of the key needs of families with
children with genetic impairments is to
understand the long-term impact of the
disorder on the child’s development.
This cannot be viewed as a single measurement process at one point in time.
Although the average intelligence quotient (IQ) of children with Down syn-
Michael E. Msall, M.D., is the director of
the Child Development Center at Rhode
Island Hospital. His clinical activities include the diagnosis, prevention, and
management of developmental disabilities and family supports for children with
disabilities. His research activities have
included developmental and functional
outcomes of children with Down syndrome, spina bifida, cerebral palsy, inborn errors of metabolism, and extreme
prematurity. Michelle R. Tremont, M.A.,
works as a senior research assistant at
the Child Development Center at Rhode
Island Hospital. Her interests include developmental psychology, the complexity
of parenting, and developmental surveillance in primary care.
*Correspondence to: Child Development Center, Rhode Island Hospital,
APC-6, 593 Eddy St., Providence, RI
02903.
E-mail: [email protected]
© 1999 Wiley-Liss, Inc.
drome at kindergarten entry is two to
three standard deviations below that of
peers, this assessment will not document the child’s ability to learn letters
and numbers and apply these concepts
to reading and mathematics. This IQ
score does not tell professionals if the
child runs, dresses, maintains continence, communicates basic needs, or
plays games with friends. Thus, many
activities most familiar to parents and
professionals cannot be described by
traditional psycho-educational scores.
Over the past decade a broader
view of functional assessment in essential activities of self-care, mobility,
communication, and social learning has
emerged simultaneously with enhanced
policy mandates established by Public
Laws (PL) in early intervention (PL99457), special education supports (PL94142), employment opportunities
(PL101-336), and disability assessment
for Supplemental Security Income (SSI)
[Perrin and Stein, 1991; Perrin et al.,
1999]. The purpose of this review is to
describe the use of functional assessment in children with genetic impair-
ments. Functional assessment will be
viewed as a process of describing a
child’s strengths and challenges in the
context of essential activities that occur
within a child’s everyday environment.
BACKGROUND
More than 60 years ago, Doll understood that in order to optimize vocational outcomes and independent living
Functional assessment will
be viewed as a process of
describing a child’s
strengths and challenges in
the context of essential
activities that occur within
a child’s everyday
environment.
in children with mental retardation,
measurement of social competency in
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
everyday activities was essential [Doll,
1935]. These social competencies included motor milestones, hand skills,
toileting, eating, dressing, locomotion,
doing chores, communication, selfdirection, and socialization [Doll,
1965]. Simultaneously, Denver and
Brown [1945] introduced a measure for
physical activities of daily living in order to assess skills required for community participation and employment
training by adolescents and adults with
chronic physical disability. Dimensions
of this rating scale included locomotion, self-care, toileting, eating, and
hand activities. Deaver’s significant
contribution was the finding that time
spent on a task in essential activities
TABLE I. NCMRR Illustrations Model of Disablement and AAMR Family Support Models*
Definitions
Pathophysiology
Five-year-old boy with
Down syndrome
Molecular, biochemical,
or cellular mechanisms
Loss of structure or
function at an organ
level
Trisomy 21
Functional
limitation
Inability of a person to
perform an activity
normal for peers
Disability
Expression of functional
limitation in a societal
context of social roles
typical for nondisabled
peers
Societal
limitations
Legal, attitudinal, and
cultural barriers
affecting community
participation
Family supports:
AAMR
definitions
Intermittent: Episodic or
short-term
developmental supports
for life transitions
Limited: Time-limited
developmental supports,
e.g., reading tutoring 1
hour 3 times a week for
a second-grader
Extensive: Long-term
daily supports at school
or at home
Pervasive: High-intensity
support with skilled
multiple staff
Difficulty with receptive
and expressive language,
complex, self-care skills,
unsupervised play, and
problem solving
Early intervention
resources for language,
adaptive skills,
socialization, and
appropriate behaviors;
family respite services
Easily accessible family
supports for behavior
challenges, creative
curricula that optimize
strengths and functional
academics
Down syndrome parent
support group,
exceptional parent
newsletter, language
software
Impairment
Communicative and
cognitive dysfunction
63
Five-year-old boy with
spina bifida
Five-year-old girl with
DiGeorge sequence
First trimester disorder of
neural tube formation
L3-L4 spinal cord
dysfunction with
neurogenic bowel and
bladder and shunted
hydrocephalus; weak
hip extensors, hip
abductors, and
quadriceps
Difficulty with stairs and
walking community
distances of 1 block;
difficulties with
fasteners
Intermittent clean
catheterization,
orthoses, and walker for
ambulation and balance
Deletion of chromosome
22
>90 db sensorineural
hearing loss, tetralogy
of Fallot, immune
dysfunction
Failure to allow for
alternative efficient
mobility, attitudes
toward crawling at
home, continency
stigma
Spina bifida parent
support group;
exceptional parent
newsletter; small group
efforts to enhance
transfers, continency,
and activities of daily
living
Too much focus on
cochlea, social isolation
of child, testimonials
about educational
philosophies
Inability to hear sounds of
language or to
communicate verbally
in sentences, difficulty
with fine motor skills
Educational curricula
emphasizing total
communication,
kindergarten readiness,
and inclusion
Medical home
supplemental Social
Security Income,
hearing-impaired parent
support group
*NCMRR, National Center for Medical Rehabilitation Research; AAMR, American Association of Mental Retardation.
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AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
was a key component for independent
living.
DISABILITY ASSESSMENT
In the 1990s, the Institute of Medicine,
the National Center for Medical Rehabilitation Research (NCMRR), the
American Association on Mental Retardation, and the American Academy
of Cerebral Palsy and Development
Medicine promulgated models for conceptualizing disability [Butler et al.,
1999]. Table I summarizes key concepts
for defining levels of analysis for assessing disability and degrees of family supports (intermittent, limited, extensive,pervasive) from the American Association on Mental Retardation
classification system [Luckasson et al.,
1992]. Table I also illustrates applications of this model by comparing Down
syndrome, spina bifida, and DiGeorge
malformation sequence.
PEDIATRIC FUNCTIONAL
ASSESSMENT
A multidisciplinary team of health,
education, and rehabilitation professionals developed the Functional Independence Measure for children
(WeeFIM威) to measure performance in
self-care, continence, mobility, locomotion, communication, and social
cognition [Msall et al., 1993]. The
WeeFIM covers 18 items that describe
seven levels of independence [Msall et
al., 1990]. These efforts built on the
pioneering efforts of Granger and colleagues to develop an essential database
for describing the outcomes of medical
rehabilitation in adults with traumatic
brain injury, stroke, spinal cord injury,
and musculoskeletal disorders [Granger
et al., 1986; Fiedler and Granger, 1998].
Self-care items include eating, grooming, bathing, dressing the upper and
lower body, and toileting hygiene.
Sphincter control (continency) items
include bladder and bowel management. Mobility and locomotion items
include changing positions (transferring) from chairs, toilet seats and tubs,
walking indoors and outdoors, selfmobility (crawl or wheelchair), and negotiating stairs. Communication items
included receptive and expressive use of
language, whether aural or visual (e.g.,
sign language, communication boards,
or augmentive communication devices). Social cognitive items include
peer social interaction, problem solving, and memory. The scoring system
of the WeeFIM is based on a sevenlevel ordinal scale with high scores of
6–7 reflecting a child’s ability to complete all components of a task without
adult help or supervision in a safe and
timely manner. Low scores of 1 or 2
reflect that the child requires that at
least half of the task components be performed by an adult. Table II lists the
complete scoring codes of the WeeFIM.
In pilot studies, the WeeFIM was
used to assess more than 400 children
without disabilities aged 6 months to 7
years [Msall et al., 1994a]. These children were seen in primary care and
community and education settings.
There was a progressive increase in levels of self-care, mobility, and communication competency. Figure 1 illustrates the 10% and 90% profiles of the
WeeFIM scores from the normative
population of children aged 2–7 years
in self-care/sphincter control (A), mobility/locomotion (B), communication/social cognition (C), and combined functions (D). In addition, over
700 children with developmental disabilities were seen in diverse settings,
including early intervention community programs (United Cerebral Palsy,
Association of Retarded Children, preschool programs for children with spe-
ARTICLE
cial needs), regional neonatal intensive
care nursery follow-up programs, and
comprehensive academic regionalized
medical center programs for children
with special health care needs (children
with cerebral palsy, technology dependency, neurological disorders, genetic
disabilities) [Msall et al., 1993, 1994b,
1997, 1998; Msall, 1996; Vohr and
Msall, 1997]. These studies demonstrated that the WeeFIM had contentand criterion-related validity for children with motor, communicative, developmental, genetic and neurosensory
impairments.
Between 1994 and 1996, psychometric properties of the WeeFIM were
assessed in 200 children with neurodevelopmental disabilities [Ottenbacher et
al., 1996, 1997]. The WeeFIM had
excellent test–retest, interrater, and
equivalence reliability. Equivalence
reliability is the demonstration that
two forms of a test yield equivalent
results [Ottenbacher et al., 1996]. In
order to enhance outpatient and community assessment efforts, equivalence
reliability of the WeeFIM was established for one-on-one interviews and
phone interviews. Criterion validity
was excellent with the Vineland Adaptive Behavior Scales and the Battelle
Developmental Inventory, two widely
used psycho-educational assessment instruments. Last, the WeeFIM had excellent caregiver correlation with the
Amount of Assistance Questionnaire
TABLE II. WeeFIM Scoring System
Heading
No helper
Helper
Vocabulary
Complete
independence
Modified
independence
Supervision
Most
Half or more
Less than half
Little
Percentage of
activity that
child performs
independently
Score
100%
7
100% with device
6
100% with adult
reminders
75% or more
50–74%
25–49%
Less than 25%
5
4
3
2
1
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
65
[Ottenbacher et al., 1999]. Table III illustrates several developmental/functional
instruments available to pediatric health
professionals.
FUNCTIONAL ASSESSMENT
IN GENETIC DISABILITIES
In order to illustrate the NCMRR disablement models for children with genetic developmental disabilities, functional skills and functional limitations in
children with Down syndrome, spina
bifida, congenital limb anomalies, congenital heart disease, urea cycle disorders, and severe developmental disabilities are described. DiGeorge malformation sequence was chosen to illustrate
the spectrum of developmental phenotypes and broad categories of functional
outcomes.
DOWN SYNDROME AS A
MODEL OF
COMMUNICATIVECOGNITIVE
DEVELOPMENTAL
DISABILITY
Significant advances have occurred in
prenatal risk assessment, rapid chromosome diagnostic technologies, and the
molecular understanding of chromosome 21 [Holtzmann et al., 1996; Rose,
1996]. Explaining the impact of trisomy
21 on the child’s development remains
the key art and science of genetic and
developmental diagnosis [Cunningham
et al., 1984]. A starting point for understanding developmental outcomes is to
phrase functional concerns in easy-tounderstand questions. These include
the following:
䡠
Will my child walk?
䡠
Will my child talk?
䡠
Will my child become independent in self-care, feeding, dressing,
and bathing?
䡠
Will my child be toilet trained?
䡠
Will my child attend school with
peers and learn?
䡠
Will my child read and make developmental progress?
䡠
Will my child have friends?
䡠
Will my child be healthy?
䡠
What supports will my child require to be successful? (As a parent,
will I receive help if my child has
developmental challenges?)
Figure 1. WeeFIM normative line graphs of self-care and sphincter control (A),
transfers and locomotion (B), communication and social cognition (C), and total score (D).
Continued on overleaf. Reprinted with permission of Uniform Data System & Medical Rehabilitation (UDSMR). All of the marks associated with WeeFIM belong to
UDSMR.
Melyn and White [1973] addressed
several of these issues by using Gesell
milestones in 612 children with Down
syndrome living in the community.
Ninety-five percent of children with
Down syndrome were competent at
sitting balance and self-mobility by age
2 years, 95% could walk independently
by age 3.5 years, 95% were toilet
trained by age 5.5 years, and 95% were
speaking in phrases by age 6 years.
Thus, basic mobility, continence, and
communication were established before
first grade. Msall and colleagues examined the use of the WeeFIM with 28
school-age children with Down syndrome (mean age, 8.8 years; range,
6–14 years) [Msall et al., 1994b]. Figure
2 illustrates WeeFIM polar graphic
scores for a 6.5-year-old girl with
Down syndrome. Children with Down
syndrome were completely independent (median score 7) in changing positions, mobility, and bowel conti-
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AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
ARTICLE
child with Down syndrome walks, talks
in phrases or short sentences, is toilet
trained, and is beginning to dress himor herself [Pueschel, 1984]. In the elementary school years, the child with
Down syndrome is independent in
most tasks of self-care and negotiates all
community motor environments, but
struggles with complex language understanding and application of these
skills to academic areas of reading and
writing [Carr, 1995; Rondal et al.,
1996].
SPINA BIFIDA AS A MODEL
OF MOBILITY AND
CONTINENCY DISABILITY
Figure 1. (Continued from overleaf).
nence. Some supervision and assistance
were required for bladder continence
and dressing (for fasteners). Major functional challenges were present in expressive communication. Developmental milestones, parental expectations of
educational vocational success, and intensity of special education classroom
size significantly correlated with total
WeeFIM score (P< 0.05).
An added advantage of tracking
functional status is that decline in performance warrants comprehensive
evaluations for biomedical conditions
that interfere with developmental competencies. Thyroid disorders, symptomatic atlanto-axial instability, ob-
structive sleep apnea, hearing loss, visual changes, and new-onset seizures
may be associated with developmental
regression in children with Down syndrome [Roizen, 1996]. A further advantage of using functional assessment is
that once basic functional competencies
are achieved, strategies for attaining
more complex educational, social, and
community skills can be prioritized.
Combining developmental and functional outcome studies, one could state
that the average child with Down syndrome at age 2 years sits, has selfmobility, engages in gesture language,
and understands some requests [Msall et
al., 1991]. At kindergarten entry, the
Despite advances in prenatal diagnosis
and multivitamin/folate use, spina bifida remains the most common central
nervous system malformation disorder
[Hall and Solehdin, 1998; Olney and
Mulinare, 1998]. Over the past three
decades, there have been significant advances in managing hydrocephalus,
neurogenic bowel and bladder, and orthopedic deformities [Sandler, 1997].
Shurtleff [1986] has provided guidelines
based on the Seattle experience, summarizing mobility, self-care, and continency skills in children with spina bifida. Shurtleff demonstrated that by
kindergarten entry, self-mobility, basic
hand function, and complex communicative skills were present. In order to
understand the impact of spinal cord
dysfunction on functional skills in self-
A starting point for
understanding
developmental outcomes is
to phrase functional
concerns in easy to
understand questions such
as “Will my child walk?”
care, continency, and mobility, the
WeeFIM was used in 20 children with
spina bifida aged 4–10 years (Fig. 3)
[Msall et al., 1994b]. A WeeFIM func-
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
67
TABLE III. Psychometric Properties of WeeFIM, Vineland, Battelle, and Amount of Assistance Questionnaire*
Test purpose
Domains
Reliability
WeeFIM
Battelle
VABSa
AAQ
Discipline-free measure
of consistent
performance of
functional skills for
children 6 months to 8
years old and children
through adolescence
with neurodevelopmental disabilities
Self-care, mobility,
communication—
social cognition
Discriminative measure
of developmental skills
in children from birth
to 8 years
Descriptive measure of
communication, daily
living, socialization,
and motor skills for
children from birth to
18 years, disabled and
nondisabled
Daily living (Adaptive),
motor,
communication,
cognitive,
personal-social
Test–retest and interrater
good to excellent
Daily living skills, motor,
communication
socialization
Discipline-free measure
of level of assistance
needed, compared
with peers, to perform
activities of daily living
for children and
adolescents with
neurodevelopmental
disabilities
Developmental skills,
specialized therapies,
activities of daily living
Excellent test–retest and
interrater reliability,
equivalence reliability
of phone interview
Validity
Content validation by
expert group;
concurrent validity
with VABS, AAQ, and
Battelle; total WeeFIM
at kindergarten entry
correlates with special
education resources
Application
Measure of functional
status at age 5.5 years
in very-lowbirth-weight–
CryoROP cohort;
after early intervention
functional goal setting
in children with
cerebral palsy, spina
bifida, genetic and
acquired disabilities
Administration time 20 min
Excellent correlation
with VABS;
concurrent validity
with WISC-R
Split half for domains
and composite,
excellent; test–retest,
excellent; interrater,
good
Excellent correlation
with school-age IQ
Excellent pilot reliability
Personal assistance
required by child over
time directly relates to
parents perception of
severity of disability
Normal and disabled
preschooler in early
intervention; children
with developmental
disabilities in early
elementary school
Preschool and long-term
outcome in
very-low-birth-weight
children; use for all
developmental
disabilities
Children with
technology
depenedency or major
motor disabilities
45 min
30 min
10 min
*From Msall [1997].
VABS, Vineland Adaptive Behavior Scale; AAQ, Amount of Assistance Quesionnaire; WISC-R, Wechsler Intelligence Scale for
Children—Revised. Battelle, Battelle Developmental Inventory; Cryo-ROP, cryosurgery for Retinopathy of Prematurity.
a
tional quotient (FQ) was calculated using the formula:
FQ =
Raw domain score × 100
.
Maximum domain score
WeeFIM profiles of children aged
4–6 years were compared with WeeFIM
profiles of children aged 7–10 years.
Two major findings emerged. First,
older children had significantly higher
FQ mean scores than the younger children, and, second, children with lowerlevel lesions (L-3 to sacral) had significantly higher WeeFIM mean values
than those with higher-level lesions.
More recently, developmental func-
tional quotients (DFQ) have been calculated using the following formula
[Uniform Data System for Medical Rehabilitation, 1998]:
DFQ =
Raw domain score × 100
.
Domain score for
normal peers
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AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
ARTICLE
Figure 2. Polar graphic of WeeFIM scoring for a child with Down syndrome. Reprinted with permission of Uniform Data System
& Medical Rehabilitation (UDSMR). All of the marks associated with WeeFIM belong to UDSMR.
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
Figure 3. Polar graphic of WeeFIM scoring for a child with spina bifida. Reprinted with permission of Uniform Data System &
Medical Rehabilitation (UDSMR). All of the marks associated with WeeFIM belong to UDSMR.
69
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AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
The value of DFQs is that strategies to maximize current goals can be
assessed from the framework of nondisabled peers. In order to understand parental priorities for independence, a
mixed sample of 38 children aged 4–8
years with either diplegic cerebral palsy
or lumbosacral spina bifida was assessed
A further advantage of
using functional assessment
is that once basic functional
competencies are achieved,
strategies for attaining more
complex educational, social,
and community skills can
be prioritized.
using the WeeFIM [Msall et al., 1992].
At a mean age of 6.4 years, 95% of the
children were independent in mobility,
whereas only 35% were independent in
maintaining continency and 33% in
self-care. Parents, however, ranked
mobility as the highest current priority
for their children. This study indicated
that parents deferred emphasis on continency and self-care, even when their
child achieved independent ambulation, because they were not confident
in their abilities to help their children
reach a certain level of independence.
Using DFQs, strategies to encourage
appropriate current priorities can be
established.
In order to promote functional
skills in children with spina bifida prior
to adolescence, Msall et al. [1995] performed a prospective study of 30 children with spina bifida attending a
6-week independence program for 21⁄2
hours weekly. The curriculum included
emphasis on continency, transfers, and
activities of daily living as well as parent
counseling strategies to facilitate ageappropriate independence of the children at home and in school. Children
were administered a baseline WeeFIM
and a follow-up WeeFIM 2–4 months
later. Goals were determined based on
WeeFIM scores and consensus of the
parent, child, and therapist. Peer, samegender teens with spina bifida were successful in teaching several younger children to be competent in intermittent
catheterization. Children younger than
85 months of age changed more than
children older than 85 months. Children
with neurological impairment at the
T10-L2 levels had significantly lower
WeeFIM scores than children with neurological impairments at the L3 to sacral
levels. The use of functional assessment
allowed for a common language so that
children, families, and health and rehabilitation professionals could specify priorities and attain measurable successes.
CONGENITAL LIMB
ANOMALIES AND IMPACT
OF PROSTHESIS
One of the advantages of functional assessment is that tasks can be completed
with rehabilitation devices. Typical devices include hearing aides, mobility
aides, and communicative devices. The
WeeFIM was used to assess 32 children
aged 4–11 years who required specialized prostheses because of limb deficiencies [Msall et al., 1994b]. Ninety
percent of the children needing prostheses had congenital limb-reduction
deficiencies. The mean total WeeFIM
DFQ was 88%, reflecting competency
levels in self-care, mobility, and communication/social cognition. All children with lower- limb deficiency
walked with prostheses. Twenty-two
percent of the children required some
assistance in self-care activities, reflecting the complexity of bimanual skills
required in manipulating zippers, snaps,
and buttons during dressing tasks.
Ninety percent of children were in
regular educational facilities. Children
who fed themselves early on had significantly higher total WeeFIM scores
than children who learned to self-feed
later. Thus, initial developmental selfcare skills were associated with subsequent total WeeFIM scores in disorders
where the prognosis in mobility and
communication developmental skills is
good. The importance of functional assessment in children with limb anomalies is that successful use of prosthesis
results in mobility independence for
ARTICLE
children with lower-limb deficiencies,
self-care independence for children
with upper-limb deficiencies, and regular education successes as the result of
communicative and social cognitive
competency.
HYPOPLASTIC LEFT
HEART AND
SINGLE-VENTRICLE AND
CONGENITAL
HEART DISEASE
Major advances in prenatal and postnatal diagnosis and cardiac surgery have
led to wider availability of interventions
for children with congenital heart disease. Certain life-threatening cardiac
malformations can be viewed as natural
experiments for assessing reconstructive
approaches. Rogers et al. [1995a,b]
studied the neurodevelopmental and
functional status of children who underwent surgical interventions for hypoplastic left-heart syndrome (HLHS)
or single-ventricle heart anomaly
(SVHA). None of the survivors had a
known chromosomal or dysmorphic
syndrome. Eleven infants with HLHS
(mean age at follow-up, 3.1 years) and
15 infants with SVHA (mean age at follow-up, 5.5 years) were given psychometric [Bayley, McCarthy, Weschler
Intelligence Scale for Children—3],
neurodevelopmental, functional
(WeeFIM), and physical examinations.
Cerebral palsy was present in 18% of
children with HLHS and in 0% of those
with SVHA. Mental retardation was
present in 73% of children with HLHS
and in 0% of those with SVHA. Results
showed that 20% of children with
SVHA had functional limitations,
whereas 73% of the HLHS children
were functionally impaired. Of the
seven children with SVHA assessed between ages 3 and 6 years (mean age of
follow-up, 3.9 ± 1 years), the mean total WeeFIM score was 86.6 ± 9.5, an
age equivalent of 37 months [Uniform
Data System for Medical Rehabilitation, 1998]. Of the seven HLHS survivors aged 3–6 years (mean age of follow-up, 4.2 ±1.1 years), the mean total
WeeFIM score was 45.4 ± 24, an age
equivalent of 19 months [Uniform Data
System for Medical Rehabilitation,
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
Figure 4. Polar graphic of WeeFIM scoring for a child with hypoplastic left-heart syndrome. Reprinted with permission of Uniform
Data System & Medical Rehabilitation (UDSMR). All of the marks associated with WeeFIM belong to UDSMR.
71
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AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
1998]. Thus, by analyzing functional
outcomes, one is able to examine physiological factors that preserve central
nervous system integrity in SVHA patients compared with factors that impair
central nervous system functions responsible for age-appropriate functional
skills in children with HLHS. Figure 4
is a WeeFIM polar graph of a 4.5-yearold child with HLHS, and demonstrates
significant self-care and cognitive functional limitations.
NEURODEVELOPMENTAL
AND FUNCTIONAL
OUTCOME IN UREA
CYCLE DISORDERS
Children with congenital urea cycle
disorders who survived neonatal hyperammonemic coma were assessed in
early childhood [Msall et al., 1984].
Children with more prolonged hyperammonemic encephalopathy, especially
if longer than 72 hours, had lower developmental scores and more central
nervous system abnormalities on CT
neuroimaging. Seventy-nine percent of
children had mental retardation, 46%
had cerebral palsy, 4% were blind, 17%
had epilepsy, and 46% had multiple
neurodevelopmental impairments.
Fourteen children with late-onset
(partial) urea cycle disorders (partial enzyme activity) were also examined
[Msall et al., 1988]. The mean number
of hyperammonemic episodes was four
(range, 0–11). Rates of neurodevelopmental impairment were high: 57% had
mental retardation (mean IQ, 56; range,
10–103), 33% had cerebral palsy,
20%had epilepsy, 13% had cortical
blindness, and 33% had multiple neurodevelopmental impairments. In children with prolonged neonatal hyperammonemic coma and more severe
late-onset hyperammonemic coma,
motor, communicative, and self-care
limitations were high. Both findings
suggest that accurate and early diagnosis
is essential in minimizing the preschool
morbidity of substantial functional limitations in children with urea cycle disorders.
Maestri et al. [1999] have recently
reported developmental outcomes of a
cohort of boys with neonatal onset of
ornithine transcarbamylase (OTC) de-
ficiency, seen between 1976 and 1996
at Johns Hopkins University Hospital.
Neonatal mortality was 46%. Among
the 28 children whose developmental
outcomes were known, 16 had severe
to profound neurodevelopmental impairments and subsequently died. Three
children received liver transplants, two
of whom had major neurodevelopmental disabilities before transplant. Of the
nine long-term survivors with developmental data, five had severe mental retardation with developmental quotients
(QD) < 50, and three had mild to moderate mental retardation (DQs of 50–
70). In addition, five needed tube feedings, four had seizure disorders, three
had spastic quadriplegia, and two had
microcephaly. Thus, even with current
efforts of metabolic rescue and maintenance, high mortality and severe motor,
self-care, and communicative limitations are present in OTC neonatal survivors.
CHILDREN WITH SEVERE
DEVELOPMENTAL
DISABILITIES: IMPACT OF
BASIC FUNCTIONAL
SKILLS ON MORTALITY
Eyman and colleagues [1990] examined
a cohort of severely developmentally
disabled children. One example of a
known severe impairment in this cohort would be trisomy 18. In initial
studies, they conclude that approximately 20% had genetic origins. As mobility, feeding skills, and hand skills increased, mortality decreased. Strauss et
al. [1997] reexamined the original data
and included children who showed improvements in early functional skills.
He separated the children into four
groups. Group A children were tube
fed and unable to lift their heads; Group
B were tube fed and able to lift their
heads, with limited rolling; Group C
were not tube fed and unable to lift
their heads; and Group D were tube fed
and capable of rolling/sitting or were
not tube fed and able to lift their heads.
The five-year survival rates were 55%
for Group A, 69% for Group B; 69% for
Group C, and 94% for Group D. The
ability to perform some motor function, with postural change, hand skills,
or feeding skills was a huge predictor of
ARTICLE
mortality in the severely developmentally disabled child. Additionally, the
inability to chew, suck, and coordinate
swallowing may be an indicator of
brain-stem dysfunction with significant
impact on long-term outcome. These
studies demonstrated that severe functional limitations contribute to both
quality and quantity of life in genetic,
perinatal, postnatal, and unknown impairments.
DiGEORGE
MALFORMATION
SEQUENCE AS A MODEL
HEARING AND
DEVELOPMENTAL
DISORDER WITH
CRANOFACIAL AND
CARDIAC MALFORMATIONS
Advances in molecular genetics have allowed for a better understanding of
contiguous gene chromosomal disorders. Chromosome 22 was found to be
a key region associated with craniofacial
and cardiac malformation and is illustrated by the DiGeorge Malformation
Sequence. Through the initial neonatal
priorities, including managing complex
cardiac, endocrine, and immune system
dysfunction, audiological and neurodevelopmental assessment are key characteristics affecting long-term outcome.
The spectrum of DiGeorge and velocardiofacial malformations includes
strengths in motor and self-care skills
but challenges in expressive speech and
language-related learning disabilities
[Driscoll et al., 1996]. However, if
there is significant sensorineural hearing
loss, then the habilitative management
goals are for children with deafness. Advances in neonatal audiological screening using transient oto-acoustic emissions and automated brainstem responses have led to earlier recognition
of sensorineural hearing impairments in
all children [Vohr et al., 1998]. Earlier
identification of children with significant sensorineural hearing impairments
will allow for appropriate family supports and educational strategies [Windmill, 1998]. Accardo [1999] has recently emphasized the importance of
the spectrum of developmental disabilities in a variety of genetic disorders. Accardo and Capute [1998] have high-
ARTICLE
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
TABLE IV. Recognizing Developmental Phenotypes—Levels of
Functional Disability
Level of disability
Mild Developmental
Disability:
WeeFIM scores within
1.5 SD of the mean for
age group
Moderate developmental
disability:
WeeFIM scores 1.5–2.5
SD below the mean for
age group
Severe developmental
disability:
WeeFIM scores 2.5–3.5
SD below the mean for
age group
Profound developmental
disability:
WeeFIM scores 3.5 SD
below the mean for age
group
73
significantly challenged, the importance
of comprehensive family supports and
access to quality protocols for position-
Prevalence and description
20–30 per 1,000
Detected in kindergarten and early
grades
Major risk factors include poverty
and lower maternal education
level
Independent in communication,
self-care, and mobility
Capable of reading and writing to
fifth-grade level
5 per 1,000
Appears as preschool language
delay
Prognosis includes independence
in mobility and self-care
Able to communicate basic needs
Major academic challenges include
middle elementary reading and
written language activities
Major risk factors include trisomy
21, contiguous gene syndromes
3 per 1,000
Identified before age 3 years
Independent in mobility, some
self-care competency
Limited communication
Range of behavior challenges
Requires much family support and
accessible respite
High rate of genetic, biomedical,
and neurological origins
1–2 per 1,000
Identified before age 2 years
Majority of those without cerebral
palsy walk
Dependent in self-care and
communication
High rates of epilepsy and
dysphagia
Requires humanistic interventions
Highest rates of genetic and
neurological origins
Appropriate use of
functional assessment tools
will allow clinicians to
describe children’s strengths
and challenges across
health, developmental,
educational, and community
settings.
ing, feeding, and self-care are necessary.
In children who have motor abilities
but challenges in communication and
social cognition, community and family
supports can be prioritized for respite,
home services, and community participation. In this way, the complexity of
genetic disorders on the central nervous
system can allow for a perspective of the
child’s strengths and challenges and
family strengths and supports. By describing the complexity of genetic
mechanisms on developmental and
functional status, medical professionals
can optimize quality of life, provide
family support, and critically contribute
knowledge to preventive efforts.
ACKNOWLEDGMENTS
lighted the complexity of syndrome
impact on developmental diagnosis.
Overall, recognizing developmental
phenotypes and their functional impact
is summarized in Table IV.
CONCLUSION
Appropriate use of functional assessment tools will allow clinicians to describe children’s strengths and challenges across health, developmental,
educational, and community settings.
Additionally, functional challenges and
multiple functional limitations are an
indicator of the impact of genetic disorders on family life. In children who
have basic functional skills, attention
can focus on factors that promote literacy, friendships, handling of information, and community participation. Important outcome areas in middle childhood include grade repetition, special
educational supports, and successes outside school. Vital areas of community
participation include sports, scouts, music, church, clubs, and hobbies. In children with major challenges in mobility
and self-care, supports to families for respite, visiting nursing, and personal care
assistance; supplemental security income; Early Periodic Screening, Diagnosis, and Treatment (EPSDT); and the
Katy Beckett Community Waiver Program can be highlighted. If a child is
The authors gratefully acknowledge the
efforts of Brian T. Rogers, Thomas M.
Lock, Nancy Lyon, Sue LaForest, Ken
Ottenbacher, Germaine Buck, and
Kathleen DiGaudio at the Robert
Warner Rehabilitation Center for
Functional Assessment, SUNY at Buffalo, for their dedicated efforts in measuring functional challenges in children
with developmental disabilities. This
article is dedicated to Dr. Arnold Capute in celebration of his lifelong efforts
to promote comprehensive neurodevelopmental and functional assessment
systems for children with genetic and
developmental disabilities. This paper
was supported in part by MCH Behavioral Training Grant MCJ 449505-02-0.
74
AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.)
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