Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia.

OBJECTIVE: The aim of this study was to assess demographics, self-reported signs of ectodermal dysplasia (problems with hair, nails, skin and sweat glands), present teeth, previous dental treatment, psychological distress and QoL in individuals with oligodontia, and to explore the associations between these factors. We also aimed to compare the level of psychological distress and QoL between the study group and normative samples. METHODS: Forty-seven individuals with oligodontia registered at a resource centre in Norway were included in the study. The participants completed self-administered questionnaires on demographics, ED signs, dental treatments, psychological distress and QoL (overall, health-related- and oral health-related QoL). Relevant statistics (independent t-test, correlation analysis and hierarchical multiple regressions) were used. RESULTS: Thirty-five participants reported ED signs. Forty-one participants had tooth replacements (nine had removable dentures). Sixteen had ≤10 present teeth, 13 perceived dry mouth and seven were unemployed. Persons with ≤10 present teeth had higher anxiety- and depression-scores than those having >10 present teeth. Unemployment, dry mouth and removable dentures indicated poor health-related- and oral health related QoL. Compared to a normative sample; the study group had significantly poorer mental health (MH)-related QoL, mean (SD); (51.1(8.2) versus 46.8(9.3), p < .001) and more anxiety, mean (SD); (4.5(3.1) versus 6.7(3.6), p < .001). ED signs and treatments were most important for psychological distress and MH related QoL (MCS), whereas demographic parameters were most important for the other QoL measures. CONCLUSIONS: The psychological burden of oligodontia is significant, emphasizing the importance of a holistic approach by caregivers.

Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study.

PURPOSE: The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED). METHODS: We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life. RESULTS: The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health. CONCLUSIONS: Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care.

Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED).

Anhidrotic/hypohidrotic ectodermal dysplasia (HED) is the most common of the ectodermal dysplasias characterized by a triad of absent or reduced sweat, hypodontia and misshapen teeth, and missing or sparse hair. As the central nervous system is primarily ectodermal in origin, it has long been a concern that HED may be associated with developmental delay and/or intellectual disabilities. While published reviews report abnormalities in mental or motor development in 15-25% of HED-affected patients, there is no report in the literature including a systematic assessment of intellectual abilities in a cohort of patients with this rare disorder. During yearly health care updates, many of our clinic families report attention difficulties in young HED patients without evidence of a significant impact on school performance. In an exploratory study to identify and quantify intellectual abnormalities that may be associated with HED, we performed a psychological examination of 23 HED patients by means of the Wechsler Intelligence Scales, WPPSI-III, and WISC-IV. The interpretation of the tests shows no significant impairment in the achievements of the sample group compared with normative values (full scale scores, and index scale scores of the WISC-IV). At an individual level, the HED-affected patients were characterised by higher scores on the Verbal Comprehension Index, on Perceptual Reasoning and Working Memory Indices, and lower scores on the Processing Speed Index. As all of the Indices were within normal limits for the study population, in the absence of major mental/motor disabilities these findings support the mainstream education of HED-affected children.

Psychoeducational characteristics of children with hypohidrotic ectodermal dysplasia.

OBJECTIVE: Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. Estimates of up to 50% of affected children having intellectual disability are controversial. METHOD: In a cross-sectional study, 45 youth with HED (77% males, mean age 9.75 years) and 59 matched unaffected controls (70% males, mean age 9.79 years) were administered the Kaufman Brief Intelligence Test and the Kaufman Test of Educational Achievement, and their parents completed standardized neurodevelopmental and behavioral measures, educational, and health-related information regarding their child, as well as standardized and nonstandardized data regarding socioeconomic information for their family. RESULTS: There were no statistically significant differences between the two groups in intelligence quotient composite and educational achievement scores, suggesting absence of learning disability in either group. No gender differences within or between groups were found on any performance measures. Among affected youth, parental education level correlated positively with (1) cognitive vocabulary scores and cognitive composite scores; (2) educational achievement for mathematics, reading, and composite scores. CONCLUSION: Youth affected with HED and unaffected matched peers have similar profiles on standardized measures of cognition, educational achievement, and adaptive functioning although children with HED may be at increased risk for ADHD.

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. Mutations in the BRAF, MEK1, and MEK2 genes cause most cases of CFC and mutations in PTPN11, SOS1, KRAS, and RAF1 typically cause NS. Although both syndromes are associated with developmental delays of varying severity, the extent to which the behavioral profiles differ may shed light on the different roles these respective genes play in development of skills necessary for everyday functioning. In this study, profiles of adaptive behavior of individuals with CFC and NS who had confirmed pathogenic mutations in Ras/mitogen-activated protein kinase (MAPK) pathway genes were investigated. Patterns of strengths and weaknesses, age-related differences, and risk factors for difficulties in adaptive skills were assessed. Although genes acting more downstream in the Ras/MAPK pathway were associated with more difficulties in adaptive functioning than genes more upstream in the pathway, several inconsistencies highlight the wide spectrum of possible developmental courses in CFC and NS. Along with clinical and genetic factors, variables such as chronological age, gestational age at birth, and parental education levels accounted for significant variance in adaptive skills. Results indicate that there is wide heterogeneity in adaptive functioning in CFC and NS, but that these abilities are correlated to some extent with the specific disease-causing genes.

Quality of life of cutaneous disease in the ectodermal dysplasias.

The ectodermal dysplasias are a complex, heritable group of syndromes that affect derivatives of ectoderm. The dermatologist plays an important role in ectodermal dysplasias as the visible defects of skin, hair, and nails are often recognized first. Our objective was to examine how quality of life relates to the degree of skin involvement in ectodermal dysplasias. Subjects (n = 42) with ectodermal dysplasias were surveyed at national and regional conferences hosted by National Foundation for Ectodermal Dysplasias on July 26 to 28, 2007 and November 17, 2007. Severity of hypohidrosis, alopecia, and fingernail involvement were measured using validated Likert scales. The quality of life was measured using the Children's Dermatology Life Quality Index in children, and the Skindex-29 and RAND Short Form-36 in adults. The severity for all subjects (n = 42) was greatest for hypohidrosis, which clinically translated into "little ability to sweat." We found that the greatest impact on quality of life was related to the actual symptoms of ectodermal dysplasias, which is not surprising as almost all participants reported skin involvement (93%), most likely related to hypohidrosis, atopic dermatitis, skin erosions and infections. The symptoms of ectodermal dysplasias may also be related to the nail involvement, as manifested by dystrophic or fragmented nails. Alopecia did not play a significant role in the quality of life burden. The challenge of providing proper skin care emphasizes the benefit of dermatologic involvement, and the need for increased recognition and enhanced awareness of the cutaneous burden in ectodermal dysplasias.

Complete denture prosthodontics in children with ectodermal dysplasia: review of principles and techniques.

Ectodermal dysplasia (ED) is a hereditary condition in which a minimum of two ectodermal structures fail to develop. Anodontia, or hypodontia, is one of the most common manifestations of this condition. As a result, it is critical that prosthodontic habilitation or rehabilitation is started early. Complete dentures are a simple, inexpensive, and reversible option. Several case reports have demonstrated the successful use of complete dentures in children with ED. However, few articles have exclusively addressed the principles of complete denture prosthodontics in these individuals. This report critically analyzes the literature with respect to complete denture principles and techniques in children. Evidence to date is insufficient for advocating any one technique; therefore, the authors recommend a simplified yet scientific approach in fabricating complete dentures for children. This can aid the practicing dentist in using this simple therapeutic option to provide esthetic, functional, and psychological benefits for children with ED and other congenital anomalies related to missing teeth.

Psychosocial functioning and quality of life in children and families affected by AEC syndrome.

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, 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 quality of life in children and adolescents with AEC syndrome, as well as the impact of the child's illness on their families. The sample included 18 children and adolescents with AEC syndrome and their parents who attended the International Research Symposium on AEC syndrome. Parents completed standardized self-report questionnaires about child and family functioning and participated in a semi-structured interview about the child's cognitive and social functioning and the impact of AEC syndrome on the child and family. Children completed standardized self-report questionnaires of psychosocial functioning and quality of life. Overall, results reflected a range of functioning across children and families, with some families reporting few ill effects of the condition and others describing reduced quality of life and 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.

Self-Assessment of Oral Health-Related Quality of Life in People with Ectodermal Dysplasia in Germany.

Background: Ectodermal dysplasia describes a heterogeneous group of hereditary, congenital malformations involving developmental dystrophies of ectodermal structures. The aim of this study was to analyse the oral health-related quality of life (OHRQoL) in people with ectodermal dysplasia and to evaluate the influence of different variables. Methods: The study was designed as an anonymous epidemiological survey study among people with ectodermal dysplasia to evaluate oral symptoms, satisfaction with the health system and their respective OHRQoL using the validated German version of the OHIP-14 (Oral Health Impact Profile) questionnaire. Results: When asked about oral symptoms, 110 of the participants provided responses, of which 109 (99.09%) described oral symptoms. The average age of the female participants at the time of diagnosis was 17.02 years (range: 0 to 48 years), the average age of men was 5.19 years (range: 0 to 43 years). The average OHIP-14 overall score for female participants was 12.23 points (SD: 12.39), for male participants an average OHIP score of 11.79 points was recorded (SD: 11.08 points). Difficulty in finding a dentist (p = 0.001), and the dissatisfaction with the health system (p = 0.007) showed a negative impact on the OHRQoL. Conclusion: People with ectodermal dysplasia rate their OHRQoL worse than is usually prevalent in the normal German population (4.09 points); women are diagnosed with "ectodermal dysplasia" later than men. Participants who reported difficulties in finding a dentist for treatment exhibited higher OHIP values. Likewise, dissatisfaction with the health system demonstrated a negative impact on the oral health-related quality of life.

Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: case report.

Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues. The triad of nail dystrophy (onychodysplasia), alopecia, or hypotrichosis (scanty, fine, light hair on the scalp and eyebrows) and palmoplantar hypohidrosis is usually accompanied by lack of sweat glands and partial or complete absence of primary and permanent dentition. Hypohidrotic ectodermal dysplasia usually has an X-linked inheritance and affects only males severely, while female heterozygotes show only minor defects. The clinical management of children with ectodermal dysplasia provides a unique opportunity for cooperative effort between the pedodontist and the prosthodontist. The following case report discusses the management of a young boy with hypohidrotic ectodermal dysplasia. Removable prostheses were employed in the treatment. The aim was to rehabilitate the adolescent prosthodontically and boost him psychologically.

Rehabilitation of ectodermal dysplasia patients presenting with hypodontia: outcomes of implant rehabilitation part 1.

PURPOSE: This study has evaluated the pre and post perceptions of patients with ectodermal dysplasia (ED) who have been referred to Westmead Centre for Oral Health for treatment with dental implants. METHODS: Six patients with ED and hypodontia were treated with new maxillary complete dental prostheses or fixed implant prostheses, and a mandibular fixed dental prosthesis with implants. Patient perceptions were recorded with a 10cm visual analogue scale (VAS). All patients were asked to draw a line on the VAS which best described their feelings regarding aesthetics, chewing, diet and speech. RESULTS: Improvement in aesthetics was reported for all patients with change scores ranging from +9 to +4 points. Similarly, all patients reported an improvement in chewing ability with +6 point changes in 2 patients, and +8, +3, +7 and +1 in the other 4 patients. Five out of 6 patients reported less dietary restriction with 3 patients each indicating a change of +6 points, +4 points, +3 points, and 2 patients reporting +1 point change. Speech improved by +1 point for 3 patients, whilst 1 patient improved by +6 points, a further 2 patients scored no change. CONCLUSIONS: Patients with ED treated with dental implants reported encouraging outcomes post treatment after prostheses were fitted. Follow-up from 1.6 to 6.8 years has confirmed these improvements.

Head and neck manifestations and quality of life of patients with ectodermal dysplasia.

OBJECTIVES: Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by deficient ectodermal and mesodermal development. Studies examining resultant otolaryngologic issues are few. The objectives of this study were to delineate the head and neck manifestations and quality of life in EDs. STUDY DESIGN AND SETTING: For 75 individuals, comprehensive histories were taken and otolaryngologic examinations were performed, and subjects rated their otolaryngologic symptom severity. A validated quality of life instrument (SF-8) was administered. RESULTS: The majority of subjects had a diagnosis of hypohidrotic ED (72%). Otolaryngologic conditions included otitis media (28%), cerumen impaction (48%), nasal obstruction/crusting (51%), heat intolerance (76%), and eczema (39%). Physical findings included peg teeth/hypodontia (76%), alopecia (41%), nasal crusting (41%), and saddle nose deformity (44%). Quality of life scores were generally high. Overall, health was rated "good to excellent" by 87 percent. CONCLUSION: Patients with ED frequently experience significant otolaryngologic symptoms, although most patients report a good quality of life. SIGNIFICANCE: A greater understanding of the otolaryngologic issues in ED should help facilitate diagnosis and improve management.

Subtle signs of prenatal maldevelopment of the hand ectoderm in schizophrenia: a preliminary monozygotic twin study.

Genes that predispose to psychosis may act by making individuals more vulnerable to the disruptive effects of various prenatal insults. Fetal organogenesis is mostly completed in the first prenatal trimester. The second trimester is a critical period of massive neuronal migration from the periventricular germinal matrix to the cortex. A peripheral appendage developing simultaneously with this neural migration to the cortex is the distal upper limb. The ectodermal cells of the fetal upper limb migrate to form the hand skin during the fourth and fifth months of gestation (first two-thirds of the second prenatal trimester). Discrepancies in hand morphology between two identical (monozygotic [MZ]) co-twins may be temporal markers, that is, the "fossilized" evidence of various ischemic and other nongenetic insults that may have affected one fetus more than his MZ co-twin during that early part of the second trimester. In twins, prenatal insults (e.g., ischemia) frequently do not affect both co-twins to the same extent, so we examined seven putative markers of prenatal injury to the hand in 24 MZ twin pairs discordant for schizophrenia or delusional disorder. Compared with well co-twins, the affected co-twins had significantly higher total scores of fourth- and fifth-month dysmorphological hand anomalies.

Comparison of perceptions of oral health-related quality of life in adolescents affected with ectodermal dysplasias relative to caregivers.

The objective of this study was to assess the perceived oral health-related quality of life (OHQoL) of adolescents affected with one of the ectodermal dysplasias (EDs). Data were collected from 2003 to 2007 in a cross-sectional study of a convenience sample of individuals affected by ED (n = 35) using the Child Perceptions Questionnaire (CPQ11-14) for children and the Parent-Caregiver Perceptions Questionnaire for their caregivers. The main findings of this study were that individuals who were affected with ED in the older age group (15- to 19-year-olds) perceived more functional problems than younger individuals (11- to 14-year-olds) (p= .04). Females with ED (n = 13) perceived more emotional problems than males (n = 22; p= .01). Although caregivers tended to report slightly higher OHQoL scores (indicating worse OHQoL), no significant differences were observed between children's and parents' total OHQoL and individual domains' median scores (p > .05). Thus, the perceptions of oral health and well-being may vary by age and gender for children who have ED. Caution is warranted concerning using parents as proxies for their children when assessing the child's OHQoL.

Opciones de tratamiento prótésico en niños con oligodoncias por displasia ectodérmica hidrótica / Prosthetic treatment options for children with oligodontia due to hidrotic ectodermal dysplasia

La reposición de los dientes no solamente influye en la adecuada alimentación y fonética, sino que también mejora la sonrisa y la apariencia personal, además del aspecto positivo que produce en el estado de salud psicológico y emocional de los niños afectados. Se presentan tres casos clínicos de niños con oligodoncias asociadas a displasia ectodérmica hidrótica, atendidos en la consulta de prótesis de la Clínica Estomatológica de Especialidades de Cienfuegos. Fueron rehabilitados con prótesis parcial removible acrílica, sobredentadura y prótesis parcial fija, respectivamente. Estas constituyen opciones de tratamiento efectivas, que solucionan el problema estético y funcional de los pacientes, y por tanto, mejoran su calidad de vida(AU)

Replacement of teeth not only contributes to adequate nutrition and phonetics, but also improves the smile and appearance, in addition to its positive impact on the psychological and emotional health of the affected children. Three cases of children with oligodontias associated with hidrotic ectodermal dysplasia who were treated at the prosthetics consultation of the Specialized Dental Clinic in Cienfuegos are presented. They were rehabilitated through acrylic removable partial dentures, overdenture and fixed partial denture, respectively. These are effective treatment options that solve the aesthetic and functional problems of the patients, and therefore improve their quality of life(AU)

[Results and effects of child psychiatric rehabilitation in polymorphic ectodermal dysplasia syndrome]. / Ergebnisse und Auswirkungen einer kinderpsychiatrischen Rehabilitation bei polymorphem ektodermalem Dysplasiesyndrom.

Since 1929 when ectodermal dysplasia was first mentioned in the literature the syndrome has been described in many case studies and genealogical reports. It has also been the subject of numerous review articles. The present article gives an account of an 8-year old boy who had long been treated under the supposition that he was severely mentally retarded. While he was an inpatient at a psychiatric facility for children and adolescents it became apparent that he had many abilities that had previously gone unnoticed, and it was felt that an intensive treatment program might possibly even lead to full rehabilitation. Upon discharge 3 months later the medical, psychological and social effects of the program were still difficult to pinpoint, but a new phase of development had clearly begun. In the reassessment of this child a totally different type of personality came to light. Because of his outward appearance the boy had till then apparently been regarded as being both somatically and mentally handicapped. The new diagnosis of a primarily somatic disability and a high level of intelligence therefore opened the door to a new developmental process.

Psychosocial stress and adaptive functioning in children and adolescents suffering from hypohidrotic ectodermal dysplasia.

In its fully manifest form, hypohidrotic ectodermal dysplasia (HED) leads to a typical dysmorphia of the face, referred to as "old man" facies. Few studies have been conducted on how children and adolescents deal with and adapt to the effects of this illness. The psychosocial stress and adaptive functioning of such patients was investigated by means of a semistructured interview conducted on a sample of 14 children and adolescents with varying degrees of this disease. The results revealed that adaptive functioning is not only dependent on the severity of symptoms. The child's intellectual potential and personality, how the disease is dealt with within the family, and reactions from the child's environment influence adaptive functioning in different ways.