Improving Understanding and Outcomes in Congenital Hand Differences.

SUMMARY: It is very important for us, the surgeons, to understand the difficulties of parents who have a baby with a congenital hand difference, not only because the parents are the decision makers for the operation but also because they need consolation and care to overcome their distress. The psychological and physical developmental milestones of the child with a congenital hand difference should be considered to achieve a satisfactory surgical outcome from the viewpoint of both the surgeon and the child. Even experts in congenital hand differences may have difficulties in decision-making with regard to certain entities because of the clinical diversity and rarity. Communication among surgeons who are interested in congenital hand differences, through social networking services or other communication tools, is very helpful and effective for the exchange of knowledge and experiences. Although the final decision should be made by the surgeon, many questions and answers from friends and colleagues will lead to better decisions.

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.

Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the FGD1 gene has been recognised as causative for this syndrome.In this case report, we describe a large Italian family in which three members across three generations show classical features of the syndrome. The youngest patient, the proband, and his mother were both molecularly studied and characterised for the not previously reported variant c.1828C>T (p. Arg610*) in the FGD1 gene but with the classic phenotype of AAS. Additionally, both the proband and his mother present a 2.5 Mb 16p13.11-p12.3 microduplication, a genetic variant still unclear for the phenotypic consequences: the co-occurrence of the two rare conditions is discussed for the possible clinical significance.

Upper Extremity Care for Children: Unique Medical and Psychosocial Aspects.

Hand surgeons encountering pediatric patients should be attuned to both technical and practical facets of caring for congenital and traumatic pathologies. Psychosocial aspects include engaging children in conversation and factoring in both self and external perception of deformity. Medical considerations are also unique, from including child abuse in the differential to having techniques to assess active motion and sensation in the nonverbal child. Certain universal principles, such as minimizing radiation exposure and limiting needle sticks, have higher emphasis in pediatric patients than in adults. With these aspects in mind, treating children and their families can be a mutually rewarding experience.

Functional Assessment of Children and Adolescents with Symbrachydactyly: A Unilateral Hand Malformation.

BACKGROUND: We studied children and adolescents with symbrachydactyly to determine whether hand function depends on digit opposability and whether scores for function and quality-of-life measures differ from population norms. METHODS: Participants were grouped on the basis of hand morphology: Group A lacked opposable digits, and Group B had ≥2 digits that were opposable. The groups were compared with each other and with norms with respect to pinch strength, the performance of bimanual activities and in-hand manipulation, and questionnaires regarding psychosocial status and the ability to perform activities of daily living (ADLs). Participants and parents also rated the appearance and function of the hand. RESULTS: Pinch strength was higher for participants in Group B (4.1 compared with 2.4 kg; p = 0.008), but the groups did not differ with respect to the proportion of participants outside of pinch norms. Participants in Group B were more likely to actively use their affected hand to perform bimanual activities (p ≤ 0.0009), and to use normal or supination strategies to accomplish in-hand manipulation (p = 0.031). The groups did not differ in the proportion of ADLs rated "difficult" or "impossible," and both groups tested within normal limits for psychosocial function. Participants from both groups and their parents rated their satisfaction with hand appearance and function similarly high. CONCLUSIONS: Participants with ≥2 opposable digits incorporated their hand better in bimanual activities and used more effective strategies to accomplish in-hand manipulation than those who did not. These groups reported no difference in the ability to perform ADLs or with psychosocial function, which was within the normal range. Children and adolescents with symbrachydactyly demonstrated and reported a high level of function in all domains of validated function tests. This study provides information to help parents of children with a unilateral hand malformation understand their child's potential function, and assist surgeons with recommending treatment. LEVEL OF EVIDENCE: Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence.

Hand Function and Appearance following Reconstruction for Congenital Hand Differences: A Qualitative Analysis of Children and Parents.

BACKGROUND: Congenital hand differences induce social, psychological, and functional challenges for children. However, little is known about how children perceive their outcomes after reconstructive or what concerns children have. METHODS: A total of 33 children (aged 6 to 17 years) who were treated for congenital hand differences, and their parents, participated in qualitative, semistructured interviews regarding the child's hand function and appearance. Discussion focused on the influence of congenital hand differences on the child's daily activities, school, and participation in sports and music. The interviews were open format to allow for spontaneous emergence of relevant themes followed by guided questioning. The interviews were transcribed verbatim and analyzed using qualitative coding, iterative comparisons, and frequency analysis to reveal perceptions of children and parents. RESULTS: In this sample, 73 percent of children and parents reported difficulty with hand function. Children experienced difficulties with personal care (58 percent), school activities (30 percent), and household tasks (27 percent). Children were bothered by hand appearance (48 percent), pain (30 percent), and weakness (24 percent). Complex anomalies were associated with greater disability and limitation in sports and music. CONCLUSIONS: Children with congenital hand differences are concerned with the aesthetics of their hands and limitations in their ability to perform activities. Children were often discouraged by activities that their peers accomplished easily, but with increasing age demonstrated adaptive behaviors to accommodate in their "own way," suggesting the uniqueness of their limitations. Patients may benefit from early hand therapy guided toward areas of concern to enhance functional adaptation.

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Cortical development is a complex process where a multitude of factors, including cadherins, plays an important role and where disruptions are known to have far reaching effects in neural development and cortical patterning. Cadherins play a central role in structural left-right differentiation during brain and body development, but their effect on a functional level remains elusive. We addressed this question by examining functional cerebral asymmetries in a patient with Van Maldergem Syndrome (VMS) (MIM#601390), which is caused by mutations in DCHS1-FAT4 cadherins, using a dichotic listening task. Using neurophysiological (EEG) data, we show that when key regulators during mammalian cerebral cortical development are disrupted due to DCHS1-FAT4 mutations, functional cerebral asymmetries are stronger. Basic perceptual processing of biaurally presented auditory stimuli was unaffected. This suggests that the strength and emergence of functional cerebral asymmetries is a direct function of proliferation and differentiation of neuronal stem cells. Moreover, these results support the recent assumption that the molecular mechanisms establishing early left-right differentiation are an important factor in the ontogenesis of functional lateralization.

Do Patient- and Parent-reported Outcomes Measures for Children With Congenital Hand Differences Capture WHO-ICF Domains?

BACKGROUND: Patient- and parent-reported outcome measures (PROMs) are increasingly used to evaluate the effectiveness of surgery for congenital hand differences (CHDs). Knowledge of an existing outcome measure's ability to assess self-reported health, including psychosocial aspects, can inform the future development and application of PROMs for CHD. However, the extent to which measures used among children with CHD align with common, accepted metrics of self-reported disability remains unexplored. QUESTIONS/PURPOSES: We reviewed studies that used PROMs to evaluate surgery for CHD to determine (1) the number of World Health Organization-International Classification of Functioning, Disability and Health (WHO-ICF) domains covered by existing PROMs; (2) the proportion of studies that used PROMs specifically validated among children with CHD; and (3) the proportion of PROMs that targets patients and/or parents. METHODS: We performed a comprehensive review of the literature through a bibliographic search of MEDLINE®, PubMed, and EMBASE from January 1966 to December 2014 to identify articles related to patient outcomes and surgery for CHD. We evaluated the 42 studies that used PROMs to identify the number and type of WHO-ICF domains captured by existing PROMs for CHD and the proportion of studies that use PROMs validated for use among children with CHD. The most common instruments used to measure patient- and parent-reported outcomes after reconstruction for CHD included the Prosthetic Upper Extremity Functional Index (PUFI), Disabilities of the Arm, Shoulder, and Hand questionnaire, Childhood Experience Questionnaire, and Pediatric Quality of Life Inventory. RESULTS: Current PROMs that have been used for CHD covered a mean of 1.3 WHO-ICF domains (SD ± 1.3). Only the Child Behavior Checklist and the Piers-Harris Children's Self-Concept Scale captured all ICF domains (body functions and structures, activity, participation, and environmental factors). The PUFI, the only PROM validated specifically for children with congenital longitudinal and transverse deficiency, was used in only four of 42 studies. Only 13 of the 42 studies assessed patient-reported outcomes, whereas five assessed both patient- and parent-reported outcomes. CONCLUSIONS: The PROMs used to assess patients after CHD surgery do not evaluate all WHO-ICF domains (ie, body structure, body function, environmental factors, and activity and participation) and generally are not validated for children with CHD. Given the psychological and sociological aspects of CHD illness, a PROM that encompasses all components of the biopsychosocial model of illness and validated in children with CHD is desirable. LEVEL OF EVIDENCE: Level III, therapeutic study.

Maturation and experience in action representation: Bilateral deficits in unilateral congenital amelia.

Congenital unilateral absence of the hand (amelia) completely deprives individuals of sensorimotor experiences with their absent effector. The consequences of such deprivation on motor planning abilities are poorly understood. Fourteen patients and matched controls performed two grip selection tasks: 1) overt grip selection (OGS), in which they used their intact hand to grasp a three-dimensional object that appeared in different orientations using the most natural (under-or over-hand) precision grip, and 2) prospective grip selection (PGS), in which they selected the most natural grip for either the intact or absent hand without moving. For the intact hand, we evaluated planning accuracy by comparing concordance between grip preferences expressed in PGS vs. OGS. For the absent hand, we compared PGS responses with OGS responses for the intact hand that had been phase shifted by 180°, thereby accounting for mirror symmetrical biomechanical constraints of the two limbs. Like controls, amelic individuals displayed a consistent preference for less awkward grips in both OGS and PGS. Unexpectedly, however, they were slower and less accurate for PGS based on either the intact or the absent hand. We conclude that direct sensorimotor experience with both hands may be important for the typical development or refinement of effector-specific internal representations of either limb.

Coping with congenital hand differences.

BACKGROUND: Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children's ability to cope with the psychosocial effects of these conditions. The authors qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. METHODS: Forty patients and their parents participated in semistructured interviews examining children's stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. RESULTS: In this sample, 58 percent of children and 40 percent of parents reported stress related to congenital hand differences, attributed to functional deficits (61 percent), hand appearance (27 percent), social interactions (58 percent), and emotional reactions (46 percent). Among the 18 children who reported stress, 43 percent of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12 percent), self-acceptance (21 percent), avoidance (27 percent), seeking external support (30 percent), concealment (30 percent), educating others (9 percent), support programs (21 percent), and religion (24 percent). CONCLUSIONS: Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress to direct resources toward strengthening coping strategies and support systems.

Congenital hand anomalies: a review of the literature, 2009-2012.

Research on congenital hand anomalies continues to slowly advance the field via retrospective investigations and surgical technique improvements. This manuscript reviews progress in the field over the last 4 years regarding an assortment of common congenital hand anomalies. We have also highlighted a few key manuscripts regarding upper extremity anomalies.

X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.

Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, brachydactyly and urogenital abnormalities. The level of intelligence shows a great variability and no specific behavioural phenotype has been described so far. In about 20 percent ofAarskog families, a mutation in the FGD1 gene located in Xp11.21 can be identified. In the present study, four affected males from the fourth generation of a large Dutch family (published in 1983 by Van de Vooren et al. (41)) are described. A novel FGD1 missense mutation (R402W) at position 1204 (1204C>T) was demonstrated. In the patients, the level of intelligence varied between normal and severely disabled. Their behavioural profile showed, among others, elements of attention deficit hyperactivity disorder, primarily reflected by impaired executive attentional processes that may be sensitive to systematic training.

Overgrowth syndromes.

PURPOSE OF REVIEW: Human growth ensues from a complex interplay of physiological factors, in the wider setting of varying genetic traits and environmental influences. Intensive research in these divergent areas, and particularly in the field of genetics, continues to clarify the molecular basis of disorders which result in overgrowth, and it is therefore timely to provide a review of these findings. RECENT FINDINGS: This article provides an overview of the factors which regulate growth, followed by a discussion of the more commonly encountered overgrowth syndromes and their genetic basis as it is understood at the current time. There is also an added focus on recently discovered genetic associations in some conditions, such as Weaver, Perlman and Proteus syndromes. SUMMARY: New discoveries continue to be made regarding the genetic basis for many overgrowth syndromes and the development of a much needed molecular classification system for overgrowth may become possible as the interlinking functions of these genes on growth are unravelled. As there exists a wide spectrum of syndromes, disorders resulting in overgrowth can represent a diagnostic and therapeutic challenge, from those causing prenatal overgrowth with a poor prognosis to less severe genetic aberrations which are identified in later childhood or adult life.

Poor agreement on health-related quality of life between children with congenital hand differences and their parents.

OBJECTIVES: To determine agreement between children with congenital hand differences (CHDs) and their parents on health-related quality of life (HRQOL) and to explore whether characteristic variables were associated with this agreement on different domains of HRQOL. DESIGN: Survey. SETTING: University hospital, outpatient clinic. PARTICIPANTS: Children with CHD (age range, 10-14 y; N=106). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURE: Agreement on HRQOL was determined by comparing child self-reports and parent proxy-reports of the Pediatric Quality of Life Inventory 4.0 generic core scales, in Dutch. Agreement was examined both at group level and individual level. RESULTS: On a group level, children scored the same as their parents on a scale of 0 to 100 (physical health, 89.1±14.1 vs 88.0±15.6; psychosocial health, 80.6±13.4 vs 79.0±14.5; and total HRQOL, 83.5±12.3 vs 82.0±13.6). On an individual level, however, scoring was subject to high variation, with children reporting both higher and lower scores than their parent proxy. There were no major determinants for agreement; we only found that agreement was higher on emotional functioning in children with more affected fingers and on social functioning in bilaterally involved children. CONCLUSIONS: In terms of mean group scores, 10- to 14-year-old children with CHD agree with their parents or proxy on the child's HRQOL. However, on an individual level, they disagree; on some subdomains limits of agreement are as large as 30 points on the 0 to 100 scale. Therefore, care should be taken in cases where children are unable to complete the questionnaire in choosing the parents' score as a representative substitute for the child's score.

Low impact of congenital hand differences on health-related quality of life.

OBJECTIVE: To evaluate health-related quality of life (HRQoL) and its determinants in children with congenital hand differences (CHDs). DESIGN: Survey. SETTING: Outpatient clinic of a university hospital. PARTICIPANTS: Children (N=116; age range, 10-14 y) with CHDs. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: HRQoL evaluated by child self-reports of the Pediatric Quality of Life Inventory and compared with reference values of healthy peers. Multivariable regression analysis was performed to investigate determinants of HRQoL. RESULTS: All children with CHDs had scores similar to those of healthy peers, except for a lower score on social functioning in children aged 13 to 14 years. Higher ease of activity performance was related to higher HRQoL scores, and presence of comorbidity was related to lower scores on all HRQoL subdomains except for school functioning. Additionally, physical health was influenced by ethnicity, bilateral involvement, and previous surgery; emotional functioning by the number of affected digits; school functioning by age; and total HRQoL by bilateral involvement. CONCLUSIONS: Children with CHDs report similar HRQoL as healthy peers. HRQoL decreased in the presence of comorbidity but increased with higher ease of activity performance. Scores on some subdomains were improved by the number of affected digits, but were reduced by age, ethnicity, bilateral involvement, and surgery. Although HRQoL is an important health outcome, it may not be sensitive to detect changes over time or changes after treatment in children with CHDs.

Children with surgically corrected hand deformities and upper limb deficiencies: self-concept and psychological well-being.

We studied self-concept and psychological well-being in children with hand deformities and upper limb deficiencies. Ninety-two children, 53 boys, 39 girls, aged 9-11 years were included. The children were divided into two subgroups - one with milder (less visible) deformities and one with severe (more complex and visible) finger-hand-arm deformities. Of the 92 children, 79 had received reconstructive surgery, and 13 had been treated with prostheses. The Piers-Harris Children's Self-Concept Scale (PHCSCS) was used to measure self-esteem and well-being. Overall PHCSCS scores showed that the whole hand deformity group had 'good' self-concept with mean scores in excess of 60 points, equal to a comparison group of healthy children. Within the hand deformity group, those with mild deformities had lower scores than those with severe deformities. This result was also found in the group of boys but not in the girls. The children with severe deformities had even higher scores than the comparison group regarding the subscale 'Intellectual and School Status'. The children with milder deformities had lower scores than the comparison group regarding the subscale 'Popularity'.

Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.

The authors characterized the cognitive, adaptive, and behavioral sequelae of Coffin-Siris (CS) syndrome and epilepsy in a 7.5-year-old child. Little is known about the early neurobehavioral presentation of CS. Clinical features consistent with this genetic anomaly include underdeveloped tips and nails of the fifth fingers, extended infranasal depression, and craniofacial abnormalities. MRI findings often reveal callosal agenesis. The authors conducted a neuropsychological evaluation and obtained parental ratings of behavioral and adaptive functioning. Attentional abilities were limited. As assessed by the Mullen Scales of Early Learning, receptive language abilities (age equivalent [AE]: 3-3) were relatively stronger than expressive skills (AE: 1-4). Adaptive functioning was low across all domains (Vineland Adaptive Behavior Composite AE: 1-9). On the Behavior Assessment for Children (BASC-2), social skills dysfunction, stereotyped and self-stimulatory behaviors, restricted interests, ritualistic play, and inappropriate object usage were noted. No significant mood disturbances were endorsed. Study findings indicate a diffuse pattern of neurobehavioral deficits in a child with CS and epilepsy. Further clinical assessment and research should include multidimensional assessment techniques, including evaluation of adaptive behavior, in an effort to capture the full range developmental sequelae in children with CS.

Toe to hand transfer in children: ten year follow up of psychological aspects.

Our previous study found positive psychosocial effects from hand reconstruction in children, by microsurgical toe transfer. The aim of the current study was to determine whether these are enduring at ten years or more postoperatively. Twenty-five patients with congenital (n=21) or post-traumatic (n=4) hand anomalies underwent transfer of either one or two toes. (Nineteen of the patients had taken part in the previous study while six had not.) All families had undergone preoperative counselling. Ten years or more after surgery, the patients and their parents underwent review to assess the long-term psychosocial outcome of the surgery. As in the previous study, a high level of satisfaction was reported, in terms of function, appearance, donor site, psychosocial well-being and the reactions of others. This was true regardless of the gender of the child. Patient and parent responses were more similar to each other than they had been in the earlier study. It was concluded that the positive effects of toe transfer surgery are enduring at long-term follow-up.

[Effect of surgical treatment on patients with cerebral palsy: improvement of manual dexterity but not of perceived competence]. / Effect van chirurgische behandeling op patiënten met cerebrale parese: wel betere handvaardigheid, beleving competentie niet verbeterd.

OBJECTIVE: To examine the relationship between impaired manual dexterity and perceived competence in children with cerebral palsy and the effect of surgical intervention, with the question whether the perceived competence is applicable as an outcome measure for surgical reconstruction of hand function. METHOD: The Dutch version of the Michigan Hand Outcomes Questionnaire (MHQ-DLV) for perceived manual dexterity and the Dutch version of the Harter Scales for perceived competence were used in a sample of 25 children and adolescents with hemiplegic cerebral palsy of the spastic type. 10 patients underwent surgical treatment to improve hand function. In this 'surgical group' both questionnaires were repeated at least one year postoperatively. RESULTS: Perceived manual dexterity was low (mean MHQ-DLV-score: 63.2; SD: 18.9), as were the scores of perceived overall competence (2.92; SD: 0.84), social competences (2.66; SD: 0.92) and athletic competences (2.29; SD: 0.79). There was no correlation between the degree of perceived impairment in manual dexterity and the perceived competence (r = -0.16; p = 0.43). After surgical reconstruction manual dexterity improved (mean increase in score: 24; SD: 10.4; p < 0.01), but perceived competence did not improve (p = 0.39). CONCLUSION: Children with cerebral palsy and impaired manual dexterity did have a lower perceived competence than children without this disorder. The extent to which manual dexterity was impaired did not correlate with the extent to which perceived competence was lowered. Surgical intervention substantially improved perceived manual dexterity, but perceived competence did not improve. Perceived competence does not seem to be applicable as an outcome measure for surgical reconstruction of manual dexterity.

[Peromelia]. / Peromelie.

Peromelia is a rare but mutilating congenital deformity representing failure of formation of parts of the upper limb. The deformity is presented unilaterally in the vast majority of the cases. Usually, these children are totally healthy beside from the deformity and are not seriously handicapped by the deformity. Correction of the deformity by hand- or forearm transplantation is not yet possible. Treatment consists of support with prosthesis in case of missing upper- or forearm and construction of fingers by toe-to-hand transplantation in case of missing fingers and hand. Treatment is not mandatory as the children use the stump in combination with their unimpaired upper limb for bimanual daily life activities. The mutilating aspect of the deformity frequently does impair especially parents but also the children to a higher extent than the actual functional disability. Psychological aid is recommended to support children and parents in managing their life with this severe deformity.