Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, 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 fusion of the eyelid margins seen in 70% of patients, cleft lip and/or 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].
There is no known cure for this condition. Treatment is directed at wound care and supportive treatments to control symptoms. Skin care recommendations include gentle, meticulous skin care with daily dressings to areas of erosions. Surveillance for infections is critical, as infants affected with significant erosions can succumb to sepsis. Older children and adults have issues with persistent and recurrent erosions, pain, and pruritus; all of which can be difficult to manage. There is no information on the long-term physical outcomes of this disorder, but affected individuals are believed to have a normal life expectancy if they survive the neonatal period.
The condition has many aspects that may impact a child's development and quality of life. The majority of affected individuals have visible physical differences such as missing hair and teeth, and red, scaly, and sometimes eroded skin. Eating, especially early in life, and speech may be impacted by cleft palate. Further, inherent to the daily skin and wound care requirements is a significant commitment of time by the patients and their caregivers, who are also often burdened with monitoring for and managing the next infection or emerging symptom.
The purpose of this study was to describe psychological adjustment 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 adolescents with AEC syndrome would likely present with some difficulties in psychological adjustment and quality of life as compared with healthy children, the nature of this study was exploratory and specific a priori hypotheses were not generated.
MATERIALS AND METHODS
The sample included children and adolescents with AEC syndrome and their parents who attended the International Research Symposium on AEC syndrome, sponsored by the National Foundation 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 caregiver was requested to complete the questionnaires, and parents were instructed to maintain consistency in reporting with the same parent completing all measures. For children age 8 and above, the questionnaire packet also included the child self-report form of the behavior assessment system for children. Parents were instructed to allow children to respond to the questionnaire as independently as possible.
As part of the conference, parents participated in a semi-structured interview about AEC syndrome and its effect on the child and 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 interview, an investigator separately assisted each child in completing the quality of life measures as appropriate for age.
Measures Completed by Both Parents and Children
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 2–25 years of age. The Parent Rating Scales (PRS) yield 4 composite 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, Study Skills, and Withdrawal). The child self-report (SRP) consists of the same four composite scales in addition to a School Problems scale. Primary scales for the child self-report include Anxiety, Attention Problems, Attitude to School, Attitude to Teachers, Atypicality, Depression, Hyperactivity, Interpersonal Relations, Locus of Control, and Relations with Parents, Self-Esteem, Self-Reliance, Sense of Inadequacy, Social Stress; and for 12–21 years old, Sensation Seeking and 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 the current study, three child participants (i.e., two for PRS and one 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 Health-Related Quality of Life 4.0 Generic Core Scales [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 children ages 2–4, 5–7, 8–12, and 13–18 years. The measure yields a Total Scale Score, a Psychosocial Health Summary Score, and a Physical Functioning Summary Score, with higher scores reflecting better HRQOL. Published norms are available for the PedsQL™ Generic Core Scales [Varni et al., 2003].
Child perceptions questionnaire/parental perceptions questionnaire
The Child Perceptions Questionnaire [CPQ11–14; Jokovic et al., 2002] is a 37-item self-report measure of the impact of 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 sought to retain as much information as possible. Therefore, for the CPQ measures there were nine instances when participants fell outside of the age range and were allowed to participate (i.e., two CPQ8–10 by less than 2 years, two CPQ11–14 by 3½ years or less, and five PPQ6–14 by 3½ years 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 children 1 month to 12 years of age that assesses stress in the parent–child system. Because the domains were relevant to our investigation, we administered the scale to parents of three children 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 challenges associated with parenting (Distractibility/Hyperactivity, 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).
The impact on family scale
The Impact on Family Scale [Stein and Jessop, 2003] is a 27-item parent-report questionnaire designed 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 internal consistency and evidence of construct validity, and is most often used in research. Published norms are not available for the Impact of Family Scale.
Child health questionnaire (CHQ)
The Child Health Questionnaire [CHQ; Landgraf et al., 1996] PF50 is a 50-item parent-report questionnaire designed to assess the physical, emotional, and social well-being of children and adolescents aged 5–18 years of age 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, Bodily Pain, General Behavior, Mental Health, Self Esteem, General Health Perceptions, Change in Health, Parental Impact-Emotional, 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 version
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 skin conditions. The measure yields a total score, with higher scores reflecting more impaired quality of life. Items measure concepts such as physical discomfort, social discomfort, and activity limitation. 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.
Child participants (N = 18) ranged in age from 4 months to 17 years (M = 6.02, SD = 4.90). Fifty percent (n = 9) were below school age (i.e., less than kindergarten) at the time of data collection. Among school age children (i.e., those enrolled in kindergarten or above), 78% (n = 7) attended public school, 11% (n = 1) a private school, and 11% (n = 1) attended a school for children with disabilities. Two school-aged children endorsed use of homebound services in the past. Nine participants (50%) were male and ethnic breakdown was as follows: 78% Caucasian, 17% African American, and 6% Mexican American.
Table I provides mean scores for all parent-reported measures. Table II provides mean scores for child-reported measures. Normative or other guidelines are provided as available to facilitate interpretation. For those questionnaires with interpretive benchmarks, measures for which the group mean score falls in an at-risk or clinically significant range are in italics. As Tables I and II reveal, 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).
Table I. Mean Scores for Parent-Reported Measures
|BASC-2 T-scores|| || || ||T-scores between 60 and 70 reflect being at-risk for a clinically significant problem; above 70 reflects a clinically significant problem|
| Externalizing problems||13||54.5 (43–83)||12.0|| |
| Internalizing problems||12||51.5 (34–71)||11.0|| |
| Behavioral symptoms index||13||55.4 (39–78)||11.1|| |
|BASC-2 T-scores|| || || ||T-scores between 30 and 40 reflect being at-risk for a clinically significant problem; below 30 reflects a clinically significant problem|
| Adaptive skills||13||44.7 (24–62)||12.3|| |
|Family impact scale raw score||16||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 family life|
|Parenting stress index percentiles|| || || ||Percentile scores >85th percentile reflect a critical range (i.e., suggestive of a professional consultation)|
| Total||15||57.7 (1–99)||34.3|| |
| Child domain||15||69.5 (5–99)||36.7|| |
| Parent domain||15||42.5 (1–85)||31.3|| |
|Parental Perceptions Questionnaire (PPQ6–14) raw scores|| || || ||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 well-being 0–40|
| Overall||12||42.8 (19–78)||18.4|| |
| Oral symptoms||12||8.0 (2–16)||4.7|| |
| Functional limitations||12||18.8 (13–28)||4.5|| |
| Emotional well-being||12||7.0 (0–16)||5.2|| |
| Social well-being||12||9.0 (1–24)||7.8|| |
|PedsQL™ Core Scales-Parent Proxy Report transformed scores|| || || ||Scores range from 0 to 100. Scores 1 SD below the population-mean indicate risk for impaired health-related quality of life. At-risk cutoffs|
| Total score||14||73.8 (41.3–97.8)||18.0||<65.4 for total score|
| Physical||14||74.8 (31.3–100)||23.0||<63.3 for physical health|
| Psychosocial||14||73.4 (46.7–100)||17.0||<64.4 for psychosocial health|
|Child Health Questionnaire (CHQ) transformed scores|| || || ||Overall range from 0 to 100. Higher scores indicate better quality of life. Normative sample norms|
| Physical summary score||10||42.9 (11.8–59.7)||14.9||Physical summary mean (SD) score = 53 (8.8)|
| Psychosocial summary||10||43.4 (16.5–63.0)||14.1||Psychosoc summary mean (SD) Score = 51.2 (9.1)|
| Score|| || || || |
| Emotional impact on parenta||10||48.3 (16.7–91.7)||30.9||Emotional impact on parent mean (SD) score = 80.3 (19.1)|
| Time impact on parentsa||10||63.3 (0–100)||36.7||Time impact on parents mean (SD) score = 87.7 (19.9)|
| Family activities scalea||10||68.8 (25.0–100)||24.4||Family activities scale mean (SD) Score = 89.7 (18.6)|
Table II. Mean Scores for Child-Reported Measures
|BASC-2 T-scores|| || || ||T-scores between 60 and 70 indicate at-risk for a clinically significant problem; above 70 reflect clinically significant problem|
| School problems||5||50.0 (39–87)||20.8|| |
| Internalizing problems||6||50.7 (37–79)||14.8|| |
| Emotional symptoms index||6||54.2 (36–86)||17.4|| |
| Attention problems||6||60.3 (40–79)||14.4|| |
| Hyperactivity||6||61.8 (51–81)||11.4|| |
|BASC-2 T-scores|| || || ||T-scores between 30 and 40 indicate at-risk for a clinically significant problem; below 30 reflect a clinically significant problem|
| Personal adjustment||5||50.0 (33–63)||11.2|| |
|Children's Dermatology Life Quality Index (CDLQI) raw score||10||5.7 (0–13)||4.7||Measure ranges from 0 to 30; higher score = more impaired dental-related quality of life|
|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|
| Overall||5||7.8 (0–30)||12.6|| |
| Oral symptoms||5||5.0 (0–16)||6.5|| |
| Functional limitations||5||1.6 (0–8)||3.6|| |
| Emotional well-being||5||4 (0–2)||0.9|| |
| Social well-being||5||8 (0–4)||1.8|| |
|Child Perceptions Questionnaire (CPQ11–14) raw scores|| || || ||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|
| Overall||2||75.0 (70–80)||7.1|| |
| Oral symptoms||2||12.0 (8–16)||5.7|| |
| Functional limitations||2||19.0 (18–20)||1.4|| |
| Emotional well-being||2||25.5 (23–28)||3.5|| |
| Social well-being||2||18.5 (14–23)||6.4|| |
|PedsQL™ Core Scales–Child Self-Report transformed scores|| || || ||Scores range from 0 to 100. Scores 1 SD below the population-mean indicates risk for impaired health-related quality of life. At-risk cutoffs|
| Total Score||9||68.2 (43.5–100)||22.4||<69.7 for total scores|
| Physical||9||78.5 (37.5–100)||24.7||<73.0 for physical health|
| Psychosocial||9||62.8 (30.0–100)||24.9||<66.0 for psychosocial health|
| Emotional||9||62.2 (30.0–100)||26.2||<59.6 for emotional functioning|
| Social||9||68.3 (30.0–100)||26.0||<66.6 for social functioning|
| School||10||57.8 (10.0–100)||36.1||<63.0 for school functioning|
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).
Table III. Constellation of Individual Scores Reflecting At-Risk or Clinically Significant Status
| BASC externalizing|| || || ||x|| || || || ||x|| || || || || || || || || |
| BASC internalizing|| || || || || || || || || || || || ||x|| || || || || |
| cBASC behavioral sxs index|| || || || || || || || ||x|| || || || || || || || || |
| BASC adaptive skills|| || || || || || || || || || || || || || || || || || |
| PSI total|| || || ||x|| || || || || || || ||x||x||x|| || || || |
| PSI child domain|| || || ||x|| ||x|| || ||x||X||x||x||x||x|| || ||x||x|
| PSI parent domain|| || || || || || || || || || || ||x||x|| || || || || |
| PedsQL total|| ||x|| ||x|| || ||x|| || ||X|| || ||x||x|| || || || |
| PedsQL physical|| ||x|| || || || ||x|| || ||X|| || ||x||x|| || || || |
| PedsQL psychosocial|| ||x|| ||x|| || ||x|| ||x||X|| || ||x|| || || || || |
| BASC school problems||x|| || || || || || || || || || || || || || || || || |
| BASC internalizing||x|| || || || || || || || || || || || || || || || || |
| BASC emotional sxs index||x|| || || || || || || || || || || || || || || || || |
| BASC Personal adjustment|| || || || || || || || || || || || || || || || || || |
| PedsQL total||x||x|| ||x|| || ||x|| || ||X|| || || || || || || || |
| PedsQL physical|| ||x|| ||x|| || ||x|| || ||X|| || || || || || || || |
| PedsQL psychosocial||x||x|| || || || ||x|| ||x||X|| || || || || || || || |
To summarize the qualitative data gathered from parent semi-structured interviews, all participant answers to each question were reviewed by a team of two investigators. For each question, both investigators independently reviewed response content, generated conceptually meaningful response categories, and grouped participant responses into these categories according to perceived content similarity. The two investigators then jointly reviewed their derived 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 categories. Participant's responses could be categorized under more than one theme as appropriate. Response categorizations were then jointly reviewed for consistency and reconciliation as needed. Identified themes and frequency of responses are provided (Table IV).
Table IV. Thematic Categorization of Parent Responses to Interview Questions
|Parent-identified challenges related to AEC|
| Hassle/pain of skin management||7||39|
| Reported minimal disruption to daily life||6||33|
| Burden of care||5||25|
| Early feeding/eating difficulties||6||33|
| Financial/insurance issues||4||22|
| Guilt/self-blaming about genetic nature of condition||3||17|
| Worry about child's future development/happiness||3||17|
| Activity limitations due to heat||3||17|
| Concern about children's decision to have their own children||2||11|
| Inquiries/reactions from others||2||11|
| Lack of control/inability to fix the problem||2||11|
| Challenges faced by healthy siblings||2||11|
|Parents perceptions of child social interaction|
| Generally gets along well with peers/no major peer difficulties||10||56|
| Not much social interaction due to young age||6||33|
| History of social difficulty related to teasing||3||17|
| Self-consciousness/worries about appearance||4||22|
| Trouble making friends/withdrawn/inhibited||3||17|
| Difficulty with speech and communication||4||22|
| Interacts better with younger children due to developmental level||1||6|
|Parent perception of challenges faced by child|
| Pain associated with treatment regimen||7||39|
| Skin difficulties||6||33|
| Dental and feeding problems||5||25|
| Self-consciousness about appearance/teasing||4||22|
| Restrictions on physical activity||5||25|
| No challenges identified due to child's young age||2||11|
|Strategy for describing child's condition to others|
| Provide syndrome symptom description||12||67|
| State “genetic disorder”||9||50|
| Provide name of condition (e.g., AEC, Hay–Wells, or ED)||8||44|
| Educate or offer brochures||3||17|
| Describe restriction(s)||3||17|
| Describe as “rare”||3||17|
| State child “born with” condition||2||11|
| Does not tell others about diagnosis||1||6|
|Positive family experiences related to having AEC|
| Increased accepting attitude/personal growth||7||39|
| Stronger personality in child||3||17|
|Relationships with health providers and other AEC families||3||17|
| Opportunity to educate others||2||11|
| Identified no positive experiences||2||11|
|Special accommodations/resources at school|
| Hearing accommodations (e.g., FM system, hearing aids)||8||44|
| Speech therapy||6||33|
| Not in school due to young age||6||33|
| Individualized accommodations (e.g., longer time to change classes, excused from swimming)||3||17|
| Heat intolerance accommodations (e.g., skipping PE/recess, air conditioned room that class uses when hot, shade on playground)||2||11|
| Occupational/physical therapy||3||17|
| No accommodations/resources||1||6|
|Activity limitations related to AEC|
| Activity restrictions due to overheat risk||4||22|
| Activity limitations due to skin erosion||4||22|
Describing the psychosocial impact of AEC syndrome on affected children and their parents required the use of multiple instruments and both child- and parent-report. The instruments, which assess multiple areas of functioning in the typical child population have been validated and normed on large samples and allow comparison of children with AEC syndrome to non-affected children in general. 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. Our study did not include reference groups with which to make statistical comparisons, but some conclusions can be drawn by comparing our results either to published instrument norms or with the results of studies assessing the same constructs in 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. The use of these multiple instruments allowed comparison of the AEC sample outcomes to those of typical children, as well as to children with similar but more familiar medical conditions and increased our understanding of the psychosocial and quality of life impact of this rare condition.
On the concept of quality of life encompassing the broad domains of physical and psychosocial functioning, parents reported that their children with AEC syndrome functioned at 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 et al., 2007], though higher than children with fibromyalgia [Varni et al., 2007]. Mean parent-report scores were within the normal range, though examination of individual scores reflects that several 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 parents on the broad dimension of psychosocial functioning. While they rated their physical functioning as higher than did children in comparison illness groups [Moorthy et al., 2005; Varni et al., 2007], 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 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-facial conditions [Jokovic et al., 2003a]. Similarly, older child participants (ages 11–17) endorsed a higher number of functional limitations, oral symptoms, and emotional as well as social problems compared to a population-based sample of children enrolled in a school dental service [Foster Page et al., 2005], as well as samples of children with dental caries, pedodontic, orthodontic, and/or oro-facial conditions [Jokovic et al., 2002; Locker et al., 2005], and hypodontia [Wong et al., 2006]. In contrast to the 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, emotional difficulties, and social difficulties as compared to those in the Jokovic et al. 2004 sample. The fact that children with dental caries endorsed so many problems compared to the two groups with 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 for child-reported skin-related quality of life falls within the range of scores reported for children with other dermatological conditions such as atopic dermatitis, psoriosis, and urticaria [Lewis-Jones and 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 pityriasis rosea [Lewis-Jones and Finlay, 1995; Chuh, 2003; Beattie and Lewis-Jones, 2006; Walker and Lewis-Jones, 2006], but less impairment than those with scabies, erythropoietic protophorphyeria, and epidermolysis bullosa [Lewis-Jones and Finlay, 1995; Horn and Tidman, 2002; Holme et al., 2006].
Three instruments evaluated the difficulty that parents experienced managing children with this rare condition which requires daily intervention and for which there are few experts or support systems in place. On one of the standardized instruments, the CHQ, 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 second normed instrument, 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 et al., 2007]. However, parenting stress associated with problematic 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 [Abidin, 1995]. This low report of stress may reflect defensiveness or that this cohort of parents who were involved in research, fundraising, and raising awareness related to their child's condition felt personally strong as parents despite the stress of AEC syndrome. On the Impact on Family Scale, parents of children with AEC reported less negative impact of the condition on their family's functioning than parents of children with spina bifida, [McCormick et al., 1986] asthma or cystic fibrosis [Czyzewski et al., 1997]. However since no normative data are available, negative impact relative to typical children is not measured on this instrument.
Inspection of Table III, the incidence of at-risk or greater subscale scores, indicates that for five of the 18 participants, no scales were elevated, and for four additional participants only one scale was elevated. Therefore, in one half of the subjects multiple indicators of 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 and other symptom-related issues as the greatest challenges for their child, a significant minority of children were reported to have peer relationship problems. A majority of the school-aged children needed accommodations for hearing impairment including speech therapy. On the other hand, a large minority of parents reported no 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.
This study represents the first attempted systematic evaluation of psychosocial functioning and quality of life in children and families affected by AEC syndrome. Though the small sample size could be construed as a limitation of the study, this sample represents a significant proportion of the total population of children identified with this condition. The lack of a control group limits conclusions to comparisons with either published norms or with results of studies evaluating psychosocial functioning in children with similar symptoms. Overall, the effect of AEC in this cohort of families was similar to the effect of other chronic, but not life threatening chronic pediatric conditions [Lavigne and Faier-Routman, 1992]. On average, quality of life and psychosocial functioning were mildly impacted in many areas but the range of functioning was broad, from unaffected to poor, in this group. Awareness of the possible areas of impact will help clinicians assess level of functioning across a variety of domains in individual children and their parents.