Psychosocial Functioning and Quality of Life in
Children and Families Affected by AEC Syndrome
Mariella M. Lane,1* William T. Dalton III,1Sandra A. Sherman,1,2Alanna F. Bree,3,4
and Danita I. Czyzewski1,3
1Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas
2SDSU/UCSD Joint Doctoral Program of Clinical Psychology, San Diego, California
3Department of Pediatrics, Baylor College of Medicine, Houston, Texas
4Department of Dermatology, Baylor College of Medicine, Houston, Texas
Received 24 August 2008; Accepted 14 February 2009
drome, also known as Hay–Wells syndrome, is a rare genetic
condition that results in abnormalities of the skin, hair, nails,
and teeth and requires frequent self-management and medical
care. We sought to describe the psychological adjustment and
well as the impact of the child’s illness on their families. The
and their parents who attended the International Research
Symposium on AECsyndrome.Parents completedstandardized
self-report questionnaires about child and family functioning
cognitive and social functioning and the impact of AEC syn-
ity of life. Overall, results reflected a range of functioning across
negative impact on child and family. Identifying the domains
that may be impacted should help clinicians better screen for
problems in functioning of children affected by AEC syndrome
and their families. ? 2009 Wiley-Liss, Inc.
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syn-
drome, also known as Hay–Wells syndrome, is a rare genetic
condition. Estimates of prevalence are unknown. It is exceedingly
rarer than the most common subtype of ectodermal dysplasia,
hypohidrotic ectodermal dysplasia, which is estimated to affect up
to 1 in 10,000 people in the United States.
The clinical features of AEC syndrome are varied and include
palate occurring in 80% of cases, and congenital erythroderma
present in 90% of cases. Potentially life-threatening erosions and
crusting of the skin, especially of the scalp, are frequent in this
condition and affect up to 100% of patients. The systemic findings
associated with AEC syndrome affect nearly every organ system,
including dental abnormalities, hair and nail anomalies, hearing
loss, and limb changes. Failure to thrive and developmental delay
are less frequently associated features of AEC syndrome [Siegfried
et al., 2005].
at wound care and supportive treatments to control symptoms.
Skin care recommendations include gentle, meticulous skin care
with daily dressingsto areas oferosions. Surveillance for infections
is critical, asinfantsaffected with significant erosions can succumb
to sepsis. Older children and adults have issues with persistent and
manage. There is no information on the long-term physical out-
a normal life expectancy if they survive the neonatal period.
The condition has many aspects that may impact a child’s
Grant sponsor: National Foundation of Ectodermal Dysplasias.
Mariella M. Lane, Ph.D., Psychiatry and Psychology Service, Texas
Children’s Hospital, 6621 Fannin St. CC 1740.01, Houston, TX 77030-
2399. E-mail: email@example.com
Published online 5 June 2009 in Wiley InterScience
How to Cite this Article:
Lane MM, Dalton III WT, Sherman SA, Bree
AF, Czyzewski DI. 2009. Psychosocial
families affected by AEC syndrome.
Am J Med Genet Part A 149A:1926–1934.
? 2009 Wiley-Liss, Inc.
daily skin and wound care requirements is a significant commit-
burdened with monitoring for and managing the next infection or
The purpose of this study was to describe psychological adjust-
ment and quality of life in children and adolescents with AEC
syndrome, as well as the impact of the child’s illness on the parents
of these children. Though we predicted that children and adoles-
cents with AEC syndrome would likely present with some difficul-
healthy children, the nature of this study was exploratory and
specific a priori hypotheses were not generated.
MATERIALS AND METHODS
and their parents who attended the International Research Sym-
posiumon AEC syndrome,sponsored bytheNationalFoundation
for the Ectodermal Dysplasias and hosted at Texas Children’s
Hospital. Informed consent was obtained from parents of
18 children with a diagnosis of AEC syndrome. The institutional
review board of Baylor College of Medicine approved the study.
Data Collection Procedures
At the beginning of the conference, parents were given packets
containing parent-report questionnaires appropriate to their
child’s age (see Measures Completed Only by Parents Section) to
independently complete. The parent identified as the primary
parent completing all measures. For children age 8 and above, the
allow children to respond to the questionnaire as independently
As part of the conference, parents participated in a semi-struc-
family’s life. Parents were asked to discuss the impact of the
condition on the child and family, how they discuss/explain it to
others, specific parent and child challenges associated with the
disorder, and any associated positive experiences. Parents also
answered questions about the child’s general cognitive and social
development. Parent-report questionnaire packets were returned
to the investigators at the time of the interview. During the parent
ing the quality of life measures as appropriate for age.
Measures Completed by Both Parents
The behavior assessment system for children—second edition.
The Behavior Assessment System for Children [BASC-2; Reynolds
and Kamphaus, 2004] is a set of questionnaires that evaluates the
behavior and self-perceptions of children and young adults
scores (Adaptive Skills, Behavioral Symptoms Index, Externalizing
Problems, and Internalizing Problems) and 16 primary scales
(Adaptability, Activities of Daily Living, Aggression, Anxiety,
Attention Problems, Atypicality, Conduct Problems, Depression,
Functional Communication, Hyperactivity, Leadership, Learning
Problems, Social Skills, Somatization,
Withdrawal). The child self-report (SRP) consists of the same four
composite scales in addition to a School Problems scale. Primary
Attitude to School, Attitude to Teachers, Atypicality, Depression,
Hyperactivity, Interpersonal Relations, Locus of Control, and
Relations with Parents, Self-Esteem, Self-Reliance, Sense of Inade-
Somatization. Published norms are available for the BASC-2
[Reynolds and Kamphaus, 2004]. Due to the small sample size,
we sought to retain as much information as possible. Therefore, in
for SRP) were outside of the age range by less than 6 months and
were allowed to participate.
PedsQL? 4.0 generic core scales. The 23-item Pediatric
[PedsQL?; Varni et al., 2003] is a questionnaire designed to
measure general health-related quality of life (HRQOL) and
includes: (1) Physical Functioning, (2) Emotional Functioning,
(3) Social Functioning, and (4) School Functioning scales. For this
study, we used the Child Self-Report forms for ages 5–7, 8–12, and
13–18 years, and the Parent Proxy-Report forms for parents of
Total Scale Score, a Psychosocial Health Summary Score, and a
better HRQOL. Published norms are available for the PedsQL?
Generic Core Scales [Varni et al., 2003].
questionnaire. The Child Perceptions Questionnaire [CPQ11–14;
oral-health and oral-facial conditions on quality of life in children
ages 11–14. The CPQ assesses four domains (Oral Symptoms,
Functional Limitations, Emotional Well-Being, and Social Well-
Being) that contribute to a composite total score. A comparable
25-item measure was used for 8- to 10-year old [CPQ8–10; Jokovic
et al., 2004] and a 31-item parent-report for children ages
6–14 [Parental Perceptions Questionnaire (PPQ6–14); Jokovic
et al., 2003a]. These latter two measures also yield four domain
scores as well as a total composite score. Published norms are not
available for the CPQ or PPQ. Due to the small sample size, we
CPQ measures there were nine instances when participants fell
outside of the age range and were allowed to participate (i.e., two
five PPQ6–14by 31/2years or less).
Measures Completed Only by Parents
Parenting stress index. The Parenting Stress Index [PSI;
Abidin, 1995] is a 120-item parent-report measure for parents of
LANE ET AL.
children 1 month to 12 years of age that assesses stress in the
parent–child system. Because the domains were relevant to our
who were older than 12 years. The PSI yields Parent and Child
Domain scores that contribute to a composite Total Stress score.
The parent domain assesses seven areas of potentially problematic
parental functioning(Competence,Isolation, Attachment,Health,
Role Restriction, Depression, and Spouse), whereas the child
domain assesses qualities of the child that may contribute to
Adaptability, Reinforces Parent, Demandingness, Mood, and
Acceptability). In addition, the measure provides a Life Stress
(i.e., reflecting stressful situational circumstances) and Defensive
Responding score. Published norms are available for the PSI
[Abidin, 1995]. For the current study, three participants were
classified as potentially engaging in defensive responding (i.e.,
Defensive Responding score of <24).
Theimpactonfamily scale. TheImpacton Family Scale [Stein
to assess the impact of a chronically ill child on various aspects of
parent and family life. The Total Impact on Family score has high
often used in research. Published norms are not available for the
Impact of Family Scale.
Child health questionnaire (CHQ). The Child Health Ques-
tionnaire [CHQ; Landgraf et al., 1996] PF50 is a 50-item parent-
from the perspective of their parent or guardian. The CHQ yields
scores on 14 ‘‘Health Concepts’’ in which higher scores indicate
better functioning. These include: Physical Functioning, Role/
Social Emotional, Role/Social Behavioral, Role/Social Physical,
Parental Impact-Time, Family Activities, and Family Cohesion.
Overall Physical and Psychosocial Scores can also be derived.
Published norms are available for the CHQ PF50 [Landgraf
et al., 1996].
Measure Completed only by Children
The children’s dermatology life quality index—cartoon ver-
sion. The Children’s Dermatology Life Quality Index [CDLQI;
Holme et al., 2003] cartoon version is a 10-item questionnaire
designed to assess HRQOL in children ages 4–16 years of age with
reflecting more impaired quality of life. Items measure concepts
such as physical discomfort, social discomfort, and activity limita-
tion. The cartoon version of the CDLQI has been demonstrated to
be equivalent to the non-illustrated version. Published norms are
not available for the CDLQI.
(M¼6.02, SD¼4.90).Fifty percent (n¼9) were below schoolage
(i.e., less than kindergarten) at the time of data collection. Among
school age children (i.e., those enrolled in kindergarten or above),
78% (n¼7) attended public school, 11% (n¼1) a private school,
and 11% (n¼1) attended a school for children with disabilities.
Two school-aged children endorsed use of homebound services in
was as follows: 78% Caucasian, 17% African American, and 6%
Table I provides mean scores for all parent-reported measures.
Table II provides mean scores for child-reported measures. Nor-
mative or other guidelines are provided as available to facilitate
interpretation. For those questionnaires with interpretive bench-
marks, measures for which the group mean score falls in an at-risk
on the instruments that have normative comparisons,mean scores
for the AEC sample were typically in the average range, though the
range of scores were quite large (Tables I and II).
In order to better appreciate the constellation of difficulties
experienced by individual participants, Table III indicates the
subscales on which an at-risk or greater level of difficulty was
reported (Table III).
To summarize the qualitative data gathered from parent semi-
reviewed by a team of two investigators. For each question, both
investigators independently reviewed response content, generated
categorizations and reached consensus about the categories to be
used. The two investigators then independently classified each
participant’s responses according to the mutually agreed-upon
jointly reviewed for consistency and reconciliation as needed.
Identified themes and frequency of responses are provided
Describing the psychosocial impact of AEC syndrome on affected
and both child- and parent-report. The instruments, which assess
multiple areas of functioning in the typical child population have
The instruments which assess the impact of symptoms that are
significant in AEC syndrome (e.g., CPQ) allow for more specific
comparisons to reference groups with at least somewhat similar
symptoms.Ourstudy did not include reference groupswith which
to make statistical comparisons, but some conclusions can be
drawn by comparing our results either to published instrument
1928 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
TABLE I. Mean Scores for Parent-Reported Measures
Behavioral symptoms index
N Mean (range)SD Interpretive guidelines
T-scores between 60 and 70 reflect
being at-risk for a clinically
significant problem; above 70
reflects a clinically significant
Adaptive skills 1344.7 (24–62) 12.3
T-scores between 30 and 40 reflect
being at-risk for a clinically
significant problem; below 30
reflects a clinically significant
Family impact scale raw score16 53.9 (44–68)8.0 Total scores range from 19 to 76.
Scores <38 indicate respondent
more likely to agree than disagree
that child with illness has a
negative impact on aspects of
Percentile scores >85thpercentile
reflect a critical range (i.e.,
suggestive of a professional
Parenting stress index percentiles
Parental Perceptions Questionnaire
(PPQ6–14) raw scores
PedsQL? Core Scales-Parent Proxy Report
Higher scores indicate more
problems. Overall scores can
range from 0 to 124; Oral 0–24;
Functional limitations 0–28;
Emotional well-being 0–32; Social
Scores range from 0 to 100. Scores
1 SD below the population-mean
indicate risk for impaired
health-related quality of life.
<65.4 for total score
<63.3 for physical health
<64.4 for psychosocial health
Child Health Questionnaire (CHQ) transformed scoresOverall range from 0 to 100. Higher
scores indicate better quality of
life. Normative sample norms
Physical summary mean (SD)
Psychosoc summary mean (SD)
Physical summary score1042.9 (11.8–59.7)14.9
Psychosocial summary1043.4 (16.5–63.0)14.1
Emotional impact on parenta
1048.3 (16.7–91.7)30.9 Emotional impact on parent mean
(SD) score¼80.3 (19.1)
Time impact on parents
mean (SD) score¼87.7 (19.9)
Family activities scale
mean (SD) Score¼89.7 (18.6)
Time impact on parentsa
Family activities scalea
aFor the Child Health Questionnaire, these three scales are presented here due to the wide discrepancy between normative sample mean and that of the AEC sample.
LANE ET AL.
children with similar conditions. While the symptom-focused
instruments have obvious face validity, very little validity evidence
of other types, such as concurrent or predictive validity, was
described.Theuseof thesemultipleinstruments allowedcompari-
as to children with similar but more familiar medical conditions
life impact of this rare condition.
On the concept of quality of life encompassing the broad
domains of physical and psychosocial functioning, parents re-
portedthat their childrenwithAEC syndrome functionedat about
the same level as children with various rheumatologic disorders,
including juvenile rheumatoid arthritis and systemic lupus
erythematosus [Ruperto et al., 2004; Moorthy et al., 2005; Oliviera
etal., 2007],though higher than children with fibromyalgia [Varni
et al., 2007]. Mean parent-report scores were within the normal
parents did express concern about their children’s quality of life.
On companion child-report instruments, children with AEC
syndrome tended to rate themselves relatively lower than did their
they rated their physical functioning as higher than did children in
they rated their psychosocial functioning lower than children with
arthritis and lupus, but similar to children with fibromyalgia, a
syndrome that has been associated with psychopathology
[Kashikar-Zuck et al., 2002]. On the PedsQLTM, children’s self-
reported Psychosocial and School Functioning mean subscale
scores were in the ‘‘at risk’’ range (see Table II), with the lowest
score on School Functioning. Despite indications of problems in
psychosocial functioning on the quality of life measures, no mean
TABLE II. Mean Scores for Child-Reported Measures
Emotional symptoms index
N Mean (range)SDInterpretive guidelines
T-scores between 60 and 70 indicate at-risk
for a clinically significant problem; above 70
reflect clinically significant problem
Personal adjustment5 50.0 (33–63) 11.2
T-scores between 30 and 40 indicate at-risk
for a clinically significant problem; below 30
reflect a clinically significant problem
Children’s Dermatology Life Quality
Index (CDLQI) raw score
10 5.7 (0–13)4.7Measure ranges from 0 to 30; higher
score¼more impaired dental-related quality
Child Perceptions Questionnaire
(CPQ8–10) raw scores
Overall ranges from 0 to 100: Oral 0–16,
Functional limitations 0–24, Emotional
well-being 0–20, Social well-being 0–40;
Higher scores indicate more problematic
Child Perceptions Questionnaire
(CPQ11–14) raw scores
PedsQL? Core Scales–Child Self-Report
Higher scores indicate more problems. Overall
scores can range from 0 to 148; Oral 0–24;
Functional limitations 0–36; Emotional
well-being 0–36; Social well-being 0–52
Scores range from 0 to 100. Scores 1 SD below
the population-mean indicates risk for
impaired health-related quality of life. At-risk
<69.7 for total scores
<73.0 for physical health
<66.0 for psychosocial health
<59.6 for emotional functioning
<66.6 for social functioning
<63.0 for school functioning
1930AMERICAN JOURNAL OF MEDICAL GENETICS PART A
TABLE III. Constellation of Individual Scores Reflecting At-Risk or Clinically Significant Status
cBASC behavioral sxs index
BASC adaptive skills
PSI child domain
PSI parent domain
BASC school problems
BASC emotional sxs index
BASC Personal adjustment
‘‘x’’s reflect that the participant’s score was in the at-risk or clinically significant range. Shaded boxes indicate that the instrument was not given due to child age.
LANE ET AL.
TABLE IV. Thematic Categorization of Parent Responses to Interview Questions
Themes according to interview questions
Parent-identified challenges related to AEC
Hassle/pain of skin management
Reported minimal disruption to daily life
Burden of care
Early feeding/eating difficulties
Guilt/self-blaming about genetic nature of condition
Worry about child’s future development/happiness
Activity limitations due to heat
Concern about children’s decision to have their own children
Inquiries/reactions from others
Lack of control/inability to fix the problem
Challenges faced by healthy siblings
Parents perceptions of child social interaction
Generally gets along well with peers/no major peer difficulties
Not much social interaction due to young age
History of social difficulty related to teasing
Self-consciousness/worries about appearance
Trouble making friends/withdrawn/inhibited
Difficulty with speech and communication
Interacts better with younger children due to developmental level
Parent perception of challenges faced by child
Pain associated with treatment regimen
Dental and feeding problems
Self-consciousness about appearance/teasing
Restrictions on physical activity
No challenges identified due to child’s young age
Strategy for describing child’s condition to others
Provide syndrome symptom description
State ‘‘genetic disorder’’
Provide name of condition (e.g., AEC, Hay–Wells, or ED)
Educate or offer brochures
Describe as ‘‘rare’’
State child ‘‘born with’’ condition
Does not tell others about diagnosis
Positive family experiences related to having AEC
Increased accepting attitude/personal growth
Stronger personality in child
Relationships with health providers and other AEC families
Opportunity to educate others
Identified no positive experiences
Special accommodations/resources at school
Hearing accommodations (e.g., FM system, hearing aids)
Not in school due to young age
Individualized accommodations (e.g., longer time to change
classes, excused from swimming)
Heat intolerance accommodations (e.g., skipping PE/recess, air conditioned
room that class uses when hot, shade on playground)
Activity limitations related to AEC
Activity restrictions due to overheat risk
Activity limitations due to skin erosion
1932AMERICAN JOURNAL OF MEDICAL GENETICS PART A
summary scores were elevated on the BASC-2, which is a specific
measure of psychopathology and behavior problems. Subscale
scores for attention problems and hyperactivity were in the at risk
range on this instrument.
Examining the symptom-specific quality of life instruments,
AEC parents’ perceptions of their child’s oral HRQOL (i.e., oral,
functional, emotional, and social difficulties) were generally less
optimal than reports by parents of children with dental, oral, and
oro-facial conditions [Jokovic et al., 2003a,b] with the exception
that greater emotional difficulties were found in one sub-group of
children with oro-facialconditions[Jokovicetal., 2003a]. Similar-
ly,olderchild participants(ages 11–17)endorseda highernumber
of functional limitations, oral symptoms, and emotional as well as
social problems compared to a population-based sample of chil-
well as samples of children with dental caries, pedodontic, ortho-
dontic, and/or oro-facial conditions [Jokovic et al., 2002; Locker
older children and parents, the younger AEC group (6–10 years)
reported more optimal HRQOL than that described by children
with dental caries or cleft lip and palate [Jokovic et al., 2004].
Specifically, AEC children reported fewer functional limitations,
the Jokovic et al.  sample. The fact that children with dental
very significant oral problems brings some question to the validity
of this instrument in the younger age group.
Regarding dermatological quality of life, the AEC sample mean
scores reported for children with other dermatological conditions
Finlay, 1995; Fivenson et al., 2002; Chuh, 2003; Ben-Gashir et al.,
2004; Beattie and Lewis-Jones, 2006]. Our sample reported more
impaired skin-related quality of life than has been reported for
children with acne, alopecia, molluscum contagiousum, or pityri-
asis rosea [Lewis-Jones and Finlay, 1995; Chuh, 2003; Beattie and
Lewis-Jones, 2006; Walker and Lewis-Jones, 2006], but less im-
pairment than those with scabies, erythropoietic protophorphye-
and Tidman, 2002; Holme et al., 2006].
Three instruments evaluated the difficulty that parents experi-
enced managing children with this rare condition which requires
daily intervention and for which there are few experts or support
discrepancies between the normative sample and the AEC sample
were highest on the subscale scores reflecting parental burden.
Specifically, parents with AEC syndrome themselves reported
personal emotional and time impact, as well as limits on family
activities related to the condition.The secondnormedinstrument,
the PSI, evaluates perceived stress related to characteristics of the
child and perceived stress related to characteristics of the parent.
Parenting stress related to child characteristics in the AEC
sample was greater than that endorsed by mothers of healthy
children [Abidin, 1995] or parents of children with craniofacial
abnormalities [Speltz et al., 1990; Krueckeberg and Kapp-Simon,
1993] and asthma, [Markson and Fiese, 2000] though lower than
the stress endorsed by mothers of children with eczema [Faught
parental functioning (vs. child characteristics) was lower than that
reported by parents’ children with eczema [Faught et al., 2007],
asthma [Markson and Fiese, 2000], craniofacial abnormalities
[Speltz et al., 1990] and surprisingly, parents of normal children
that this cohort of parents who were involved in research, fund-
raising, and raising awareness related to their child’s condition felt
the Impact on Family Scale, parents of children with AEC reported
less negative impact of the condition on their family’s functioning
normative data are available, negative impact relative to typical
children is not measured on this instrument.
scores, indicates that for five of the 18 participants, no scales were
elevated, and for four additional participants only one scale was
at-risk or poorer quality of life were reported. These results are
consistent with the responses of the parents in the qualitative
interview summarized in Table IV. The majority of families
reported some challenges, most prominently the burden of daily
care, financial and insurance issues, and emotional concerns for
their child and the child’s future. While parents noted treatment
child, a significant minority of children were reported to have peer
relationship problems. A majority of the school-aged children
current challenges or restrictions due to AEC syndrome, and the
majority of this involved proactive parent cohort could describe
positive experiences related to AEC, such as personal growth
through overcoming adversity or helping others.
affected by AEC syndrome. Though the small sample size could be
construed as a limitation of the study, this sample represents a
with this condition. The lack of a control group limits conclusions
to comparisons with either published norms or with results of
symptoms. Overall, the effect of AEC in this cohort of families was
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