Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?).

BACKGROUND: The congenital absence of the tibia is a rare disease, and an orthopaedic surgeon may not encounter such cases during the course of his/her career. This is the largest report to date of the management of such cases by a single surgeon. The foot and leg were persevered in the majority of the cases, and a functional evaluation system was used to report outcomes. METHODS: Thirty-six patients with tibial hemimelia, who had been under the direct care of the authors since infancy, were evaluated clinically and radiographically. The patients or their parents filled out the Pediatric Quality of Life and the parents' satisfaction forms. The surgical interventions performed, and their effects on school attendance and, and also the shoe type they wore were documented. RESULTS: Thirty-six patients (19 girls and 17 boys) with 48 tibial-deficient limbs (19 right, 5 left, and 12 both right and left sides) were studied. The patients were assessed at 12 years (2.5 to 32.5 y), with a mean follow-up of 9 years (2 to 23 y). The 48 limbs included 14 type I, 16 type II, 11 type IV, and 7 unclassified by using the Jones classification; and 6 type I, 11 type II, 16 type III, 1 type IV, and 14 type VII by using the Weber classification. Primary amputation was performed in 8 patients (10 limbs) and limb preservation surgeries on 38 legs (28 patients). Tibiofibular synostosis, centralization of the ankle, and Ilizarov lengthening were the most common procedures. Nonunion of tibiofibular synostosis (2 cases) and knee stiffness (6 cases) were the main complications. Among the reconstructed limbs, 12 were in regular and 18 in modified shoes. The Pediatric Quality of Life of 68 points in the reconstructed group was a significant achievement, and it was also better than the score of patients who had undergone amputation. CONCLUSION: Reconstruction of tibial hemimelia with foot preservation provides good functional outcome in the majority of cases. LEVEL OF EVIDENCE: Level IV.

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.

Experiences of parents of children with congenital limb differences with health care providers: a qualitative study.

UNLABELLED: This article describes a qualitative, participatory action research study based in grounded theory, in which an online survey was developed and utilized to explore and generate suggestions for further research about the needs and health care experiences of parents of children with congenital limb differences (CLD) during the first year of the child's life. PARTICIPANTS: Fifty parents completed an online survey that was developed through review of themes in the literature and input from people with CLD and their families. Primarily with open-ended questions, the survey targeted the respondents' perceptions of the attitudes and approaches of health care providers. RESULTS AND DISCUSSION: Results indicate that parents consistently commented on three main areas of interaction with health care providers: attitudes, information, and emotional or psychological support. Research hypotheses generated from the data are presented. Implications and suggestions for future directions are discussed.

On the connection between physical defects and the character type of the "exception".

A clinical and theoretical study is presented of the effects of physical defects on character structure, especially on its narcissistic aspects. The basic thesis of this paper is that there are two differentiable responses to awareness of a physical disability: various forms of denial, and a clinging to narcissistic overgratifications as a compensation for negative feelings about the self. The first response, of overusing denial, is universal, and of course leaves its mark on a person's character. However, only the second sort of response, of clinging to overgratifications, leads to the character type of the "exception" (Freud 1916). The distinction between moral ideals, embodied in the ego ideal narrowly defined, and nonmoral ideals, embodied especially in the wishful self-image, is presented as a useful tool in understanding various psychological effects of physical disabilities.

Predictors of parental distress after congenital disabilities.

This study investigated the relationship between child functional independence, family dynamics, psychosocial factors, and level of distress in parents of children with congenital disabilities. The Vineland Adaptive Behavior Scales, the Family Assessment Device (FAD), and the Brief Symptom Inventory (BSI) were administered to 60 parents of children with cerebral palsy, 34 parents of children with spina bifida, and 27 parents of children with limb deficiencies. Stepwise multiple regression analyses indicated that the Roles scale from the FAD and the presence of a significant new psychosocial stressor within the previous 6 months were statistically significant predictors of the level of parental distress as assessed by the BSI. Exploration of the extent to which families have adaptive distributions of responsibilities for dealing with domestic tasks, as well as with unrelated life stressors, may be helpful in identifying those parents of children with congenital disabilities who are at risk for distress.

Beyond re-membering: phantom sensations of congenitally absent limbs.

Phantom limbs are traditionally conceptualized as the phenomenal persistence of a body part after deafferentation. Previous clinical observations of subjects with phantoms of congenitally absent limbs are not compatible with this view, but, in the absence of experimental work, the neural basis of such "aplasic phantoms" has remained enigmatic. In this paper, we report a series of behavioral, imaging, and neurophysiological experiments with a university-educated woman born without forearms and legs, who experiences vivid phantom sensations of all four limbs. Visuokinesthetic integration of tachistoscopically presented drawings of hands and feet indicated an intact somatic representation of these body parts. Functional magnetic resonance imaging of phantom hand movements showed no activation of primary sensorimotor areas, but of premotor and parietal cortex bilaterally. Movements of the existing upper arms produced activation expanding into the hand territories deprived of afferences and efferences. Transcranial magnetic stimulation of the sensorimotor cortex consistently elicited phantom sensations in the contralateral fingers and hand. In addition, premotor and parietal stimulation evoked similar phantom sensations, albeit in the absence of motor evoked potentials in the stump. These data indicate that body parts that have never been physically developed can be represented in sensory and motor cortical areas. Both genetic and epigenetic factors, such as the habitual observation of other people moving their limbs, may contribute to the conscious experience of aplasic phantoms.

Phantom limb experiences in congenital limb-deficient adults.

This case report describes phantom limbs in four adults with congenital limb deficiency. Case 1, with congenital absence of the left arm below the elbow, received a minor injury of the stump at age 16 and subsequently developed a full-length phantom arm, hand and fingers. Cases 2 and 3, at the ages of 26 and 30, underwent minor surgery of the lower limbs and subsequently developed vivid, full-length phantoms of their legs. Case 4, aged 31, was born with a shortened and deformed right leg, and underwent amputation of the foot and deformed part of the leg at age 3. Beginning at age 6, she developed a full-length phantom leg and foot that touched the floor, which persisted for more than 20 years. The descriptions by these four adults lend credibility to earlier reports of phantom limbs in congenital limb-deficient children. They also indicate that these phantoms may persist into adulthood.

Effects of parental adjustment on the adaptation of children with congenital or acquired limb deficiencies.

Maternal and paternal depression, anxiety, and marital discord were investigated as predictors of depression, anxiety, and self-esteem in 54 children with congenital or acquired limb deficiencies. Higher paternal depression predicted higher child depression and higher anxiety. Higher paternal anxiety predicted higher child depression and anxiety and lower self-esteem. Higher marital discord predicted higher child depression and anxiety and lower self-esteem. Maternal depression and anxiety did not predict child psychological adaptation. Family support had a positive effect on child adaptation, as did parent, classmate, teacher, and friend social support. The findings are discussed in terms of the risk and protective effects of parental distress, marital discord, and social support on the psychological adaptation of children with visible chronic physical disorders. J Dev Behav Pediatr 14:13-20, 1993. Index terms: limb deficiencies, children, adjustment, social support, parental distress, family functioning, marital discord.

Psychological adjustment and perceived social support in children with congenital/acquired limb deficiencies.

The negative impact on psychological adjustment from the chronic strain of living with limb deficiencies appears to be mediated by perceived social support. A multifactorial investigation was conducted to identify empirically psychological adjustment correlates of perceived social support in 49 children with congenital/acquired limb deficiencies. A multiplicity of adjustment factors (depression, trait anxiety, self-esteem) was variously related to perceived parent, teacher, classmate, and friend social support. Hierarchical multiple regression analyses provide initial evidence of the potentially powerful effects of the social environment of the school setting, with perceived classmate social support the only significant predictor variable across depressive symptomatology, trait anxiety, and general self-esteem. The results are discussed as the first step in identifying the potential correlates of multiple perceived social support domains, which may provide empirical guidance for future intervention studies designed to modify adjustment factors in chronically ill and handicapped children.

Phantom representations of congenitally absent limbs.

It has been widely claimed that phantom limbs are not experienced by children born without the part or who have it amputated in early childhood. This review looks at some reported cases of such phantoms, as well as a lesser known account that shows that phantoms of aplasics can be vivid and dexterous. Reasons for the infrequency of such reports are examined, and some implications for understanding the development of the body schema are proposed.

[Specific psychomotor organization in a child with phocomelia]. / Specificna organizacija psihomotorike deteta sa fokomelijom.

The authors follow the specific development of a child with phocomelia. Psychomotoric organization was analyzed in the period prior to starting school and before the child became literate. The existence of specific forms and outlines of catching movements was established. The lower extremities developed a compensatory--fine motorics mechanism of toe abduction. A drawing of a human figure expressed the specific experiencing of the body scheme as the "losing" of the upper extremities. Left-handedness was discovered. Typical difficulties exist in the forming of the number conception. Preparations are being done for the mastering of the use of the intelectual prosthesis-computer.

Determinants of self-esteem in children with congenital/acquired limb deficiencies.

Social support, family functioning, self-perceptions of appearance, school, behavior, athletics, and social competence, as well as daily hassles/microstressors, were investigated as determinants of general self-esteem in 41 children with congenital/acquired limb deficiencies. Classmate, parent, teacher, and friend social support all were significant predictors of self-esteem. Family conflict and organization were also significantly associated with self-esteem, as were microstressors. The overall model of significant predictor variables accounted for 66% of the variance in general self-esteem. General self-esteem also was significantly predictive of depressive symptomatology. The findings suggest a number of factors which are potentially modifiable and which might enhance general self-esteem in children with visible physical handicaps.

Educational provision, parental expectation and physical disability.

This research was focused firstly on the characteristics of 24 physically disabled pupils attending ordinary primary schools, and secondly on the views of their parents concerning external support services and educational provision. There was evidence that the pupils had received a considerable amount of professional attention. However, parents appeared to be disappointed by the quality of service on offer from professional agencies outside the school. By contrast, they expressed strong satisfaction with the response of teachers to the needs of their children.

Life history model of adaptation to disability: the case of a 'congenital amputee'.

Life histories can be used to describe adaptation over time to disabling conditions and the context and meaning of disabilities. Data from the life history of Diane DeVries, a 33-year old woman born with quadralateral limb deficiencies (upper extremity hemimelia, lower extremity amelia) illustrate a model for eliciting, presenting and interpreting life histories of persons with disabilities. Substantively, the life history of Diane DeVries indicates, at this time, survival within a niche of institutional supports that include marriage, church membership, and government for the disabled. Her life history is also characterized by choices that support independent living in the community and a cognitive orientation toward her own cultural normality.