Psychodynamic understanding and treatment of patients with congenital disability.

This paper is a follow-up to an article published in 1989 by Cubbage and Thomas. The purpose of that article was to provide a comprehensive analysis of classical Freudian concepts such as castration anxiety, narcissism and self-regard, fear of the loss of love, secondary gain, the death instinct, and ego strength as they related to the treatment and personality development of persons with disabilities. Despite a rigorous review of the literature, an important paper of Freud's with direct and significant implications for persons with congenital or other early-life disabilities was inadvertently overlooked. The purpose of the present paper is to correct that oversight and to provide an almost verbatim synopsis and rehabilitation treatment implications of Freud's (1916) comments on "Exceptions," a character designation that includes persons with congenital or other early-life disabilities that are viewed by the patient as having occurred through no fault of his or her own.

Sprengel's deformity of the shoulder joint treated by Woodward operation.

BACKGROUND: Sprengel's shoulder deformity is a rare condition that happens because of the abnormal termination of the caudal migration of the scapula during the embryonic period. METHODS: This retrospective clinical study included 10 consecutive children who underwent a Woodward operation to correct the Sprengel's shoulder deformity. RESULTS: The average preoperative Cavendish grade for cosmetic evaluation was 3.5 (range 3-4), which decreased to 1.4 (range 1-2) at the final review (statistically significant, p > 0.002, Wilcoxon signed-rank test). Cavendish grade improvement and increase in abduction had a strong positive association (r = 0.681, Spearman correlation coefficient. CONCLUSION: The results showed that both functional and cosmetic outcome had a positive correlation with Woodward procedure. More cosmetic and functional improvement was seen at the last follow-up visit especially in cases where the operation was done in the younger years. LEVEL OF EVIDENCE: IV.

Symptomatic Nonsyndromic Pancarpal Coalition: Report of a Rare Case and Review of the Literature.

Carpal coalition, the union of 2 or more carpal bones, can be congenital or acquired. Congenital, nonsyndromic carpal coalition usually presents in otherwise healthy individuals. The most common coalition is between the lunate and the triquetrum, followed by the capitate and the hamate. Pancarpal coalition, or coalition of all or most of the bones of the carpus, is an extremely rare finding and usually occurs as part of a syndrome. We present a nonsyndromic case of this rare entity, in a 28-year-old woman of West African descent, with symptoms of left hand and wrist pain. Our literature review revealed only 1 other reported case of isolated, nonsyndromic symptomatic pancarpal coalition.

[Efficacy of BAHA softband in young children with bilateral congenital aural atresia].

OBJECTIVE: To retrospectively analyze the auditory and speech development of young children with bilateral congenital aural atresia after using bone-anchored hearing aid (BAHA) softband. METHODS: From August 2010 to January 2013, a total of 12 patients aged at a range of 3 months to 6 years with bilateral aural atresia using BAHA softband were divided into under 4-year-old group (n = 7, an average age of 14 months) and over 4-year-old group (n = 5, an average age of 77 months). The air and bone auditory thresholds of the under 4-year-old group were assessed by auditory brainstem response (ABR). The Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) was used to evaluate early auditory development.Soundfield pure tone audiometry (PTA) was applied in the over 4-year-old group. The Standard Chinese lexical neighborhood test (LNT) was conducted to evaluate the speech discrimination scores unaided and aided for 6, 12 and 24 months. RESULTS: For the under 4-year-old group, the unaided air and bone conduction hearing thresholds were 70-90(73 ± 12) and 15-25(21 ± 4) dB nHL respectively.IT-MAIS score improved significantly after using softband for 6 months in comparisons with unaided situations. The average hearing threshold of patients in the over 4-year-old group was (63 ± 6) dB HL unaided versus (31 ± 4)dB HL aided. The average decline in pure-tone threshold was (32 ± 3)dB HL with BAHA softbands and LNT demonstrated improvements in the speech discrimination score. The differences of paired comparison were significant (all P < 0.05). CONCLUSIONS: The hearing ability of children with bilateral congenital aural atresia improves significantly after using BAHA softband. And its application at a young age can guarantee a relatively normal hearing development and avoid oral communication impairment.

[Functional and aesthetic rehabilitation of microtia in children and adolescents]. / Funktionelle und ästhetische Rehabilitation der Mikrotie bei Kindern und Jugendlichen.

BACKGROUND: Microtia leads to a severe functional and aesthetic handicap. Traditionally, the auricle is often reconstructed with cartilage transplants, which is, however, associated with some partially substantial disadvantages. The authors have instead used implants of porous polyethylene for successful ear reconstruction for years, thus, avoiding some of these disadvantages. A significant benefit for the patient is achieved by simultaneous hearing rehabilitation by the implantation of active middle ear prostheses. METHODS: The authors present their surgical concept which allows functional and aesthetic rehabilitation of microtia in children and adolescents in a single operation. In the respective patient collective, audiometric measurements in quiet and noisy environments were conducted pre- and postoperatively, and health-related quality of life was determined using a validated questionnaire. RESULTS: All patients experienced a substantial hearing gain both in quiet and noisy environments. The evaluation of health-related quality of life showed a significant benefit from the intervention. CONCLUSION: Functional and aesthetic rehabilitation of microtia with active middle ear implants and ear reconstruction using porous polyethylene leads to good and reliable long-term results and can increase the health-related quality of life of affected children and adolescents. The main advantage of this concept is the possibility of a single procedure.

Construction of an implant-retained auricular prosthesis with the aid of contemporary digital technologies: a clinical report.

Implant-retained auricular prostheses are a successful treatment modality for children with microtia. They involve only minor surgical intervention of implant placement and result in an esthetically pleasing outcome. Integration of digital technologies (DT) in the prosthetic reconstruction process is a new approach toward enhancing outcomes. In this report we present a case of auricular prosthetic reconstruction following two implant placements in the right mastoid region. The ear prosthesis was constructed with the aid of various DTs. A structured light laser scanner was used to digitize the nondefect patient ear. The digitized 3D ear was then manipulated in specialist software, mirrored to reflect the opposing side, and a Rapid Prototyping (RP) machine (Z-Corp) was used to manufacture the soft tissue required. This RP-mirrored ear model allows very accurate reproduction to replicate missing soft tissue. A color Spectrometer was used to accurately reproduce skin tones. The use of these technologies is now routine practice at our unit. They enhance prosthetic outcomes and esthetics, save the prosthetist's time, and are digitally stored and subsequently readily available and reproducible.

Challenges of developing communicative interaction in individuals with congenital profound intellectual and multiple disabilities.

BACKGROUND: Physiological responses have been used in individuals with acquired disability to enable communicative interaction without motor movement. This study explored four autonomic nervous system (ANS) signals-electrodermal activity, skin temperature, cardiac patterns and respiratory patterns-to enable interaction with individuals born with profound intellectual and multiple disabilities (PIMD). METHOD: A series of case studies were conducted to teach a 15-year-old individual with PIMD to voluntarily control his ANS signals for the purposes of communicative interaction. Training was carried out according to an alternating treatment single-subject research design. RESULTS: Training was unsuccessful; however, ANS signal patterns revealed issues unique to people with PIMD: profound intrasubject variability, discrepancy between physiological responses and caregiver perspectives, and the participant's lack of contingency awareness. CONCLUSIONS: These three priority areas unique to people with congenital PIMD must be addressed before ANS signals can be used to enable communicative interaction with this population.

Bilateral implant-retained auricular prosthesis for a patient with congenitally missing ears. A clinical report.

Microtia is a major congenital anomaly of the external ear. It includes a spectrum of deformities from a grossly normal but small ear to the absence of the entire external ear. These deformities account for three in every 10,000 births, with bilaterally missing ears seen in fewer than 10% of all cases. Congenital abnormalities of the ear are unlikely to result in the complete absence of the ears, but the patient presented in this article had bilateral congenitally missing ears. There was loss of anatomic landmarks and alteration of normal bony architecture. Minimal tissue was available for retention; therefore, conventional techniques could not be used for achieving retention. A two-implant-supported auricular prosthesis was planned, but the patient was found to have deficient bone in the implant site. Hence the implants were placed posterior to these sites, and the superstructure was modified to accommodate for this change in position of the implant to ensure the esthetic positioning of the prosthesis.

Parental satisfaction with follow-up services for children with major anatomical congenital anomalies.

BACKGROUND: Since 1999 a multidisciplinary follow-up programme for parents and children with major anatomical congenital anomalies is in place in our hospital, run by a dedicated team. The aim of the present study was to evaluate the services of this team from a parental perspective. METHODS: Parents completed a questionnaire including open and closed questions about satisfaction with the various professional disciplines involved in the follow-up, statements on usefulness of the follow-up services and suggestions for improvement. RESULTS: Four hundred and sixty-nine surveys were sent out, of which 71% were returned. Non-responding parents included significantly more parents of non-Dutch origin (P= 0.038) and parents who never responded to invitations for follow-up examinations (P < 0.001). Parental satisfaction differed for the various disciplines. Eighty per cent of the parents were (very) satisfied with the social worker, compared with 92% with nurses. More than half of the parents agreed that the follow-up services give peace of mind. Almost a quarter of parents, however, considered the follow-up services as redundant. The children of these parents had significantly shorter intensive care unit stay (P= 0.02), were older at the time of the questionnaire (P= 0.04), of higher socio-economic status (P= 0.001) and less likely to be of non-Dutch origin (P= 0.008). Sixty-one per cent of the parents had contacted the 24-h helpline. Ninety per cent of the parents were satisfied with the intensive care unit, almost 80% with the general ward. CONCLUSION: Overall, parents were satisfied with the services of the follow-up team. Some parents, however, saw room for improvement related to better communication, recognizability of the team and better planning and organization.

Acquisition limitations of bone conduction hearing devices in children with unilateral microtia and atresia.

OBJECTIVE: To characterize the use of bone conduction hearing devices (BCHD) for hearing management in children with unilateral congenital aural atresia (CAA) at a tertiary pediatric center's microtia clinic while assessing challenges in acquisition. BCHD generally provides better audiologic outcomes than atresiaplasty in pediatric CAA. BCHD is formally recommended for only bilateral CAA, although literature has begun to show benefit in unilateral CAA. METHODS: A retrospective case series of patients born between 2014 and 2018 with unilateral microtia at an urban tertiary care children's hospital collected information on demographics, CAA laterality, hearing loss (HL) severity, management, and acquisition. Statistical analysis aided characterization of BCHD use. RESULTS: 131 patients (65% males) were included with a mean age of 3.5 years. 108 (82%) patients with unilateral microtia were used for further analysis, and right sided microtia was most common (67.6%). Of patients with auditory brain response (ABR) testing available, 70% demonstrated conductive HL, 16% mixed HL, 1% sensorineural HL, 6% no HL secondary to grade 1 microtia, and 7% were pending evaluation. Overall, 46 (42.6%) patients with unilateral microtia obtained a BCHD. 68.7% of those offered a BCHD after ABR opted for acquisition. The average length of time from offer to fit was about 6 months. CONCLUSION: Even with thorough consultation and follow up, less than half of the patients with unilateral CAA received a BCHD. Missed initial ABR appointments that lead to BCHD recommendation seem to be the greatest limiting factor, while demographics did not play a confounding role. Family education and future research on obstacles preventing BCHD use in unilateral CAA will help standardize management and improve hearing within this critical auditory period.

Contribution of spectral pinna cues for sound localization in children with congenital unilateral conductive hearing loss after hearing rehabilitation.

Congenital unilateral conductive hearing loss (UCHL) jeopardizes directional hearing and speech perception in noisy conditions. Potentially, children with congenital UCHL can benefit from fitting a hearing device, such as a bone-conduction device (BCD). However, the literature reports limited benefit from fitting a BCD, and often, surprisingly, relatively good sound localization in the unaided condition is reported. In this study, we hypothesized that the limited benefit with a BCD is related to (i) insufficient access to binaural cues and (ii) relying on monaural spectral pinna cues for sound localization in the horizontal plane. Directional hearing was tested in seventeen children with congenital UCHL (age 6-19) using a percutaneous BCD. Additionally, a mold was placed in the pinna of the normal-hearing ear to diminish direction-dependent spectral pinna cues. Relatively good localization in azimuth was found in the unaided hearing condition in the majority of the children. Sound localization improved when listening with a BCD, and no correlation between age of implantation and aided localization performance was found. When the mold was inserted, the unaided and aided localization abilities of most children deteriorated. Interestingly, in the children with poor localization performance in the unaided condition, sound localization improved significantly with the BCD, and was hardly affected by molding the pinna of the normal-hearing ear. These observations indicate that the majority of these children rely on spectral pinna cues to localize sounds, independent of listening with or without their device. In conclusion, an important reason for the limited benefit of BCD fitting in children with congenital UCHL might be ascribed to an effective coping strategy (use of spectral pinna cues) that still plays a dominant role after BCD fitting.

Sport orientation and athletic identity of Greek wheelchair basketball players.

The purpose of this study was to examine sport orientation and athletic identity of Greek wheelchair basketball players. The sample consisted of 50 male wheelchair basketball players all coming from different teams participating at the Greek National Championship. Thirty-three (n = 33) participants had acquired disabilities, and 17 (n = 17) participants had congenital disabilities. The years of training of the participants ranged from 1 to 22 years. All subjects completed the Sport Orientation Questionnaire, with factors of competitiveness, goal orientation, and win orientation, and the Athletic Orientation Questionnaire which assesses personal identity, social identity, exclusivity, and negative effect. The study indicated satisfactory internal consistency for the questionnaires' factors. Furthermore, players with congenital disabilities appeared more win-oriented and focused on specific goals and with stronger self-perception of their athletic role compared to players with acquired disabilities.

Frequency characteristics and speech recognition in cartilage conduction.

OBJECTIVE: Cartilage conduction (CC) is a new transduction form, and hearing devices that utilize CC present a new option for patients with aural atresia. However, in occluded ears, low-tone sounds are transmitted very effectively, resulting in excessive low-tone sound emphasis and speech recognition reduction. This study aimed to clarify low-tone speech recognition for CC in occluded ears, and determine if excessive low-tone sound emphasis decreases maximum speech recognition scores. METHODS: Eight volunteers with normal hearing participated. The performance-intensity function and maximum speech recognition scores for CC with an earplug (i.e., occluded) and air conduction (AC) were measured under high- and low-pass filter (HPF and LPF) conditions, respectively. RESULTS: An HPF improved the maximum speech recognition scores for CC in occluded ears. The scores for CC (occluded) under the conditions of the first- and second-order HPF did not differ from that for AC under the no-filter condition. Conversely, an LPF reduced the scores for AC. The scores and confusion matrices under the second-order LPF condition were similar to those for CC (occluded). CONCLUSION: The conditions under the second-order LPF resembled those of CC in occluded ears. An HPF can compensate excessive low-tone emphasis and improve speech recognition.

Health-related quality of life following surgical attenuation of congenital portosystemic shunts versus healthy controls.

OBJECTIVES: To design a health-related quality of life questionnaire for dogs with congenital portosystemic shunts, use it in a cohort of dogs treated with suture attenuation and compare results with those obtained from a healthy control cohort. MATERIALS AND METHODS: Data were collected from the hospital records of dogs treated with suture ligation of an intrahepatic or extrahepatic congenital portosystemic shunt at two referral centres. Owners were asked to complete a questionnaire assessing their dog's health-related quality of life preoperatively (retrospectively) and at the time of follow-up. Owners of control dogs also completed the questionnaire. RESULTS: One hundred and twenty-eight dogs with congenital portosystemic shunts and 131 control dogs were recruited. Median follow-up time was 64 months (range 19.7 to 157.2). The median long-term health-related quality of life score was excellent for both intrahepatic and extrahpatic shunt cases and similar to that of control dogs. The long-term portosystemic shunt clinical sign scores for both intrahepatic and extrahepatic congenital portosystemic shunt dogs were significantly worse than the those of the control group. CLINICAL SIGNIFICANCE: Suture attenuation of congenitial portosystemic shunts is associated with an excellent health-related quality of life score at long-term follow-up.

Development and testing an online near-infrared spectroscopy brain-computer interface tailored to an individual with severe congenital motor impairments.

PURPOSE: For non-verbal individuals, brain-computer interfaces (BCIs) are a potential means of communication. Near-infrared spectroscopy (NIRS) is a brain-monitoring modality that has been considered for BCIs. To date, limited NIRS-BCI testing has involved online classification, particularly with individuals with severe motor impairments. MATERIALS AND METHODS: We tested an online NIRS-BCI developed for a non-verbal individual with severe congenital motor impairments. The binary BCI differentiated categorical verbal fluency task (VFT) performance and rest using prefrontal measurements. The participant attended five sessions, the last two of which were online with classification feedback. RESULTS: An online classification accuracy of 63.33% was achieved using a linear discriminant classifier trained on a four-dimensional feature set. An offline, cross-validation analysis of all data yielded an optimal adjusted classification accuracy of 66.6 ± 9.11%. Inconsistent functional responses, contradictory effects of feedback, participant fatigue and motion artefacts were identified as challenges to online classification specific to this participant. CONCLUSIONS: Results suggest potential in using an NIRS-BCI controlled by the VFT in instances of severe congenital impairments. Further testing with users with severe disabilities is necessary. Implications for Rehabilitation Brain-computer interfaces (BCIs) can provide a non-motor based means of communication for individuals with severe motor impairments. Near-infrared spectroscopy (NIRS) is a haemodynamic-based brain-imaging modality used in BCIs. To date, NIRS-BCIs have not been thoroughly tested with potential target users. This case study shows that NIRS-BCIs may offer a means of practical communication for individuals with severe congenital impairments and continued exploration is advisable.

Rare case of bilateral aural atresia and cochlear dysplasia: when cochlear implantation is not the answer.

OBJECTIVE AND IMPORTANCE: Reports of patients with concurrent middle and inner ear anomalies are rare. These patients present a surgical challenge for cochlear implantation. The surgical risk must be weighed against the predicted benefit of the patient's hearing outcome and subsequent development of speech and language as well as their quality of life. CLINICAL PRESENTATION: Thirteen-year-old boy presented to the Otology clinic for auditory rehabilitation options. He has mild developmental delay, is non-verbal and communicates via American Sign Language. He was born with bilateral aural atresia and never wore amplification. On exam he has grade 1 microtia and complete ear canal atresia bilaterally. His behavioural hearing test shows profound sensorineural hearing loss of both ears. The computed tomography scan shows bilateral underdeveloped and completely opacified mastoid and middle ear, complete bony atresia of the ear canals, and an under-partitioned cochlea with poorly defined modiolus, among other abnormalities. The patient and his family were counselled on the available options as well as the need for any further studies. INTERVENTION: Counselling of patient and family. CONCLUSION: While there have been reports in the literature of performing cochlear implantations in patients with a concurrent atresia and cochlear dysplasia, these were patients whose degree of inner ear anomalies was relatively minor and their prognosis of a good audiological outcome was favourable. The presented case is that of a patient for whom the surgical approach to the cochlea alone would be difficult. More importantly, his quality of life would not significantly improve in light of the predicted limited hearing and language development outcomes, given the severity of his inner ear abnormalities, limited communication abilities, prolonged period of deafness and developmental delays.

Management of laryngeal cleft in mechanically ventilated children with severe comorbidities.

Laryngeal clefts are rare congenital malformations of the posterior part of the larynx. The severities are correlated with the downward extension of the cleft and can involve numerous clinical symptoms including dysphagia and respiratory distress. As significant comorbidities may be present, individual treatments depend on the child's general condition and type of cleft involved. Herein, we describe two cases of children with laryngeal clefts and severe comorbidities requiring mechanical ventilation. One child with type III laryngeal cleft was successfully managed with the lateral pharyngotomy approach. The other child with type II laryngeal cleft has not been able to undergo cleft-closure surgery because of severe general conditions, therefore has continued training for feeding and swallowing.

Improved directional hearing of children with congenital unilateral conductive hearing loss implanted with an active bone-conduction implant or an active middle ear implant.

Different amplification options are available for listeners with congenital unilateral conductive hearing loss (UCHL). For example, bone-conduction devices (BCDs) and middle ear implants. The present study investigated whether intervention with an active BCD, the Bonebridge, or a middle ear implant, the Vibrant Soundbridge (VSB), affected sound-localization performance of listeners with congenital UCHL. Listening with a Bonebridge or VSB might provide access to binaural cues. However, when fitted with the Bonebridge, but not with a VSB, binaural processing might be affected through cross stimulation of the contralateral normal hearing ear, and could interfere with processing of binaural cues. In the present study twenty-three listeners with congenital UCHL were included. To assess processing of binaural cues, we investigated localization abilities of broadband (BB, 0.5-20 kHz) filtered noise presented at varying sound levels. Sound localization abilities were analyzed separately for stimuli presented at the side of the normal-hearing ear, and for stimuli presented at the side of the hearing-impaired ear. Twenty-six normal hearing children and young adults were tested as control listeners. Sound localization abilities were measured under open-loop conditions by recording head-movement responses. We demonstrate improved sound localization abilities of children with congenital UCHL, when listening with a Bonebridge or VSB, predominantly for stimuli presented at the impaired (aided) side. Our results suggest that the improvement is not related to accurate processing of binaural cues. When listening with the Bonebridge, despite cross stimulation of the contralateral cochlea, localization performance was not deteriorated compared to listening with a VSB.

Living with thalidomide: health status and quality of life at 40 years.

Thalidomide was first synthesized in 1953 and was subsequently marketed as a mild hypnotic and sedative in more than 20 countries. By 2001 it was estimated that there were 5,000 survivors from the 10,000 - 12,000 babies who were, as a result, born with severe abnormalities. For these survivors, recent concerns have emerged about their physical state, in particular their levels of pain and their ability to maintain independence. It was therefore wished to ascertain health status and current concerns amongst a sample of survivors living in the UK. A combination of qualitative and quantitative methodologies was employed. Qualitative interviews were undertaken with a sample drawn from the population affected by thalidomide known to the Thalidomide Trust. Selection of participants was based upon a theoretical sample frame. Postal questionnaires to examine health status and various psychosocial aspects concerned with living with the consequences of thalidomide were sent subsequently to these same participants and to a random sample of those not originally drawn for the qualitative interviews. For the qualitative interviews, 28 agreed to take part; two refused and the remainder did not respond. Those agreeing to interview were representative of the original compensation bands (Chi-Square = 3.929; p = 0.416). Several themes emerged from these interviews, including the effects on work and career; coping in terms of attitude to life, self-image, confidence, self-esteem, stress and emotion; relationships, independent living issues and emergent problems such as pain, quality of life, and anxiety about the future. A postal questionnaire was then sent to those who had agreed to interview (28), plus a random sample of the remaining group who were not initially chosen for the qualitative interviews. In total 82 people were sent the questionnaire, of whom 41 (50%) responded. Two-thirds of responders were female. Seven out of ten lived with a partner, and over half (56%) had children. Almost half (46%) were in work, but 32% reported they were permanently unable to work because of disability. Current levels of impairment were found to be similar across groups defined by the original compensation band. In contrast, the activity limitation measures showed a steep gradient across bands but only 37% considered themselves disabled. Nevertheless, despite the restriction in activities for some, levels of participation were similar across bands; likewise simple summary items on health status and quality of life were similar and 70% reported their quality of life (QoL) was good or better than good. Yet nine in ten believed that their body was less flexible than in the past. Almost as many reported they were less able to carry things. It turns out that when compensation bands were grouped (1 - 3, 4 - 5) to highlight those most severely affected according to the original assessment, then those in the higher band grouping reported significantly more musculoskeletal problems, high levels of fatigue and increasing dependency and feelings of vulnerability. It is clear that the original ranking of disability severity, as expressed through the compensation, bands (allocated in early childhood in most cases), is consistent with current ranking of limitations in activity and participation. Nevertheless, despite high levels of disability amongst some survivors, lifelong adjustments to the original impairments have resulted in more than two thirds reporting at least a good quality of life. However, survivors expressed increasing concern about emerging musculoskeletal and other problems which may compromise hard-won independence.