A Qualitative Study Exploring Parental Perceptions of Telehealth in Early Intervention.

Using telehealth as a mode of service delivery has the potential to address some long-standing challenges in early intervention (EI) services such as waiting lists to access services. Yet, little is known about parent perceptions of telehealth in EI based on their lived experiences partnering with EI practitioners. The purpose of this study was to explore parent perceptions on using telehealth, especially on family-professional partnerships and coaching. Interviews were conducted with 15 parents of children receiving EI services via telehealth from June to August of 2021. Almost half of the participants reflected under-represented racial and ethnic backgrounds. Constant comparative analysis and emergent coding were used for data analysis. The findings showed that the advantages outnumbered the disadvantages regarding telehealth. Participants reported that telehealth provided a safe and flexible option and eliminated the wait to access EI services. However, participants identified some disadvantages to telehealth including telehealth precluded substantive interactions with therapists and limited access to technology. The findings also indicated that telehealth enhanced family-professional partnerships. Nearly all participants valued coaching during telehealth. Participants suggested initial supports to facilitate EI via telehealth, including stable internet access, telehealth training, and an initial in-person visit. Implications for research and practice are discussed. Supplementary Information: The online version contains supplementary material available at 10.1007/s10882-022-09853-w.

Getting from here to there: future planning as reported by adult siblings of individuals with disabilities.

BACKGROUND: Although they will often serve as caregivers for their brothers-sisters with intellectual and developmental disabilities (IDD), adult siblings are rarely included in future planning. METHOD: This study examined 495 American siblings who completed a web-based questionnaire about themselves, their brother-sister with IDD, parents and whether their families completed 11 future planning activities. RESULTS: Although virtually all families completed some future planning, on average, families completed slightly over half of the 11 activities (75% completed eight or fewer). Families more frequently identified a successor to current caregivers and engaged in planning discussions with one another and with the brother-sister; least often, families completed a letter of intent or began securing residential placements. Future planning activities comprised three domains: (1) legal activities, (2) residential activities and (3) family discussions about the future. Variables relating to one or more domains included whether the brother-sister lived in or outside of family home; brother-sister independent living abilities; presence of an intellectual disability; parent caregiving ability; and current sibling caregiving and involvement with the brother-sister with IDD. CONCLUSIONS: Although most families engage in some future planning, performance varies widely within and across future planning domains. Future planning involves different considerations and interventions depending on whether one is considering legal, residential or family discussions.

Getting by with a little help from my friends: siblings report on the amount of informal support received by adults with disabilities.

BACKGROUND: Given decreased formal supports for adults with intellectual and developmental disabilities (IDDs) in many industrialised countries, we need to know more about informal, or natural, supports. METHOD: Adult siblings (N = 632) responded to a web-based survey about the informal supports received by their brothers/sisters with IDDs. RESULTS: Informal support was organised by the life domains of recreation, employment and housing. Adults with IDDs received the most extensive informal support in recreation and the least extensive in housing; low levels characterised all domains. Individuals with greater numbers of supporters in a domain experienced higher levels of support, as did those residing with family and who received more state-supported, formal benefits. CONCLUSIONS: Unpaid, informal supports supplement the support needs of adults with IDDs. Connections between formal and informal supports for adults with IDDs need to be examined further.

A pilot evaluation of an advocacy programme on knowledge, empowerment, family-school partnership and parent well-being.

BACKGROUND: Internationally, it has been recognised that parents need to advocate for their children with disabilities to receive services. However, many parents find advocacy difficult because of systemic and logistical barriers. As such, parents of children with disabilities may seek a special education advocate to help them understand their child's rights and secure services. Yet little research has been conducted about programmes to develop special education advocates. METHODS: In this study, we conducted a comparison study to determine the association of an advocacy programme (i.e. the Volunteer Advocacy Project) on a primary outcome (i.e. special education knowledge) and other outcomes (i.e. family-school partnership, empowerment and parent well-being). Specifically, in 2017, 34 participants, all mothers of children with disabilities, were recruited from disability organisations in the USA. Seventeen mothers participated in the intervention group (i.e. the advocacy training), while 17 mothers participated in the wait list control group. The Volunteer Advocacy Project is a 36 hr advocacy training for individuals to gain instrumental and affective knowledge to advocate for their own children with disabilities and for other families. All participants completed a pre-survey and post-survey; only intervention group participants completed a 6-month follow-up survey. RESULTS: Compared with 17 wait list control group participants, the 17 intervention group participants demonstrated improvements in special education knowledge, P = 0.002, η2  = 0.32, and self-mastery, P = 0.04, η2  = 0.15, and decreases in the quality of family-school partnerships, P = 0.002, η2  = 0.32. At the follow-up survey, intervention group participants demonstrated increases in empowerment, P = 0.04, η2  = 0.29, and special education knowledge, P = 0.02, η2  = 0.38. CONCLUSIONS: Implications for research including the need for a randomised controlled trial are discussed; also, practitioners need to evaluate advocacy training programmes regarding their effectiveness.

Inflammatory cell burden and phenotype in endomyocardial biopsies with antibody-mediated rejection (AMR): a multicenter pilot study from the AECVP.

This multicenter case-controlled pilot study evaluated myocardial inflammatory burden (IB) and phenotype in endomyocardial biopsies (EMBs) with and without pathologic antibody-mediated rejection (pAMR). Sixty-five EMBs from five European heart transplant centers were centrally reviewed as positive (grade 2, n = 28), suspicious (grade 1, n = 7) or negative (n = 30) for pAMR. Absolute counts of total, intravascular (IV) and extravascular (EV) immunophenotyped mononuclear cells were correlated with pAMR grade, capillary C4d deposition, donor specific antibody (DSA) status and acute cellular rejection (ACR). In pAMR+ biopsies, equivalent number of IV CD3+ T lymphocytes (23 ± 4/0.225 mm(2) ) and CD68+ macrophages (21 ± 4/0.225 mm(2) ) were seen. IB and cell phenotype correlated with pAMR grade, C4d positivity and DSA positivity (p < 0.0001). High numbers of IV T lymphocytes were associated with low grade ACR (p = 0.002). In late-occurring AMR EV plasma cells occurring in 34% of pAMR+ EMBs were associated with higher IB. The IB in AMR correlated with pAMR+, C4d positivity and DSA positivity. In pAMR+ equivalent numbers of IV T lymphocytes and macrophages were found. The presence of plasma cells was associated with a higher IB and occurrence of pAMR late after transplantation.

Defendants with intellectual disabilities and mental health diagnoses: faring in a mental health court.

BACKGROUND: Begun in the late 1990s, mental health courts are specialty criminal courts developed to address the needs of persons with mental illness. METHODS: As many persons with intellectual disabilities (IDs) may overlap in the mental health court system, we used mental health court records to examine the phenomenology and outcomes of 224 defendants with and without co-occurring IDs in the mental health court. This study had two goals: (1) to examine the prevalence of defendants with IDs in the court and (2) to compare defendants with dual diagnoses with defendants with lone mental health disorders. RESULTS: Approximately 11% of defendants in the mental health court also had IDs. Compared with individuals with mental health disorders alone, individuals with dual diagnoses were more likely to be younger, male, African-American and less well-educated; these defendants were also more likely to show externalising, 'turning-against-others' symptoms, less likely to show internalising, 'turning-against-self' symptoms. Defendants with IDs (vs. those without) more often received behavioural, vocational rehabilitation and other services, although the two groups did not differ on most outcome variables. CONCLUSION: Directions for future research are discussed.

De novo HLA sensitization and antibody mediated rejection following pregnancy in a heart transplant recipient.

Here we report a case wherein both donor-specific and third-party, paternal, HLA class II specific antibodies developed following a spontaneous miscarriage resulting in antibody-mediated rejection in a patient who had undergone an orthotopic cardiac transplant six years earlier.

Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis.

Heart failure is the usual cause of death in patients with amyloid cardiomyopathy. The commonest form of hereditary cardiac amyloidosis is associated with the Val122Ile variant of transthyretin (TTR), which is carried by 3-4% of the African American population. Here, we report the outcome of the first cardiac transplantation in a patient with TTR V122I. A 59-year-old Caribbean man presented with biventricular failure. Other than previous bilateral carpel tunnel syndrome, he had been well and had no evidence of extracardiac amyloidosis. An endomyocardial biopsy demonstrated amyloid of TTR type. Sequencing of TTR gene indicated homozygosity for V122I. He underwent cardiac transplantation and 3 years later, remains well with no evidence of allograft or systemic amyloid deposition.

Impaired left ventricular systolic function early after heart transplantation is associated with cardiac allograft vasculopathy.

Cardiac allograft vasculopathy (CAV) is a major cause of death more than 1 year after heart transplantation. We evaluated the role and possible predictive value of different etiological factors on development of CAV as diagnosed by quantitative coronary angiography (QCA). A total of 121 patients were studied with baseline QCA and 117 had a follow-up study at 1 year to assess the relationship of mean lumen diameter loss (MLDL) in main coronary arteries to immunological and non-immunological factors potentially affecting long-term survival. Out of them, 103 patients were males (85%), 114 (94%) patients were Caucasians and mean age was 48.5 +/- 10 years. Univariate analysis showed that MLDL at 1 year was inversely related to echocardiographic fractional shortening (FS) measured within the first week after transplantation (p = 0.0098) and to intracranial hemorrhage as cause of donor death (p = 0.04) and was directly related to male donors (p = 0.0008), domino transplants (p = 0.037) and donor negative cytomegalovirus (CMV) status (p = 0.022). Multivariate analysis showed that initial FS (p = 0.006) and donor intracranial hemorrhage as a cause of death (p = 0.042) were inversely related to MLDL whereas donor male sex (p = 0.003) and prednisolone treatment throughout the first year (p = 0.012) were directly related. Thus, left ventricular systolic dysfunction early after heart transplantation was associated with subsequent development of CAV.

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.

Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, give rise to Emery-Dreifuss muscular dystrophy and to limb-girdle muscular dystrophy 1B (EDMD and LGMD1B). With one exception, all the reported EDMD and LGMD1B mutations are confined to the first 10 exons of the gene. We report four separate cases, with mutations in the same codon of LMNA exon 11, characterized by remarkable variability of clinical findings, in addition to features not previously reported. One patient had congenital weakness and died in early childhood. In two other patients, severe cardiac problems arose early and, in one of these, cardiac signs preceded by many years the onset of skeletal muscle weakness. The fourth case had a mild and late-onset LGMD1B phenotype. Our cases further expand the clinical spectrum associated with mutations in the LMNA gene and provide new evidence of the role played by the C-terminal domain of lamin A.

Distribution of laminins in the basement membranes of the upper gastrointestinal tract and Barrett's oesophagus.

Barrett's oesophagus predisposes to oesophageal adenocarcinoma. In vitro, laminin, a component of the epithelial basement membrane (BM), is important in regulation of cell differentiation. There is limited information on the distribution of laminin chains in the upper gastrointestinal tract (GIT) and none in Barrett's oesophagus. This study aimed to investigate qualitatively the distribution of laminins in the normal upper GIT mucosa and Barrett's oesophagus in order to understand the role of laminins in metaplasia. Immunoperoxidase staining for laminin chains alpha1, alpha2, alpha3, alpha5, beta1, beta2, beta3, gamma1, and gamma2 was performed on frozen endoscopic squamous and Barrett's oesophageal biopsies and surgical resection specimens from squamous oesophagus (in resection specimens for oesophageal cancer), and in oesophageal and gastric biopsies from control subjects. alpha1 laminin was expressed in the BM of submucosal glands and ducts in squamous oesophagus and Brunner's glands in the duodenum, but not in Barrett's oesophagus or elsewhere in the upper GIT. alpha2 laminin chain was expressed in a granular distribution in the BM of squamous epithelium. In columnar epithelium, including Barrett's oesophagus, alpha2 laminin chain was expressed continuously in the BM of glands and deeper pits, but expression was reduced and granular in the surface epithelial BM. beta2 laminin was continuous in squamous epithelial BM, but in Barrett's and cardia, gastric body, and duodenum, it was expressed faintly in the surface but continuously in the BM of glands and deeper pits. The constituents of laminin-5 were continuously expressed in the BM of squamous epithelium, but in the cardia, gastric body, duodenum, and Barrett's, they were expressed only in the BM of surface epithelium, with a sharp decline in the glandular and deeper pit BM. Site-specific distribution of the alpha2 and beta2 laminin chains may therefore have an important role in Barrett's metaplasia. However, the absence of alpha1 laminin in Barrett's mucosa suggests that this is unlikely to play an important role in columnar metaplasia.

Long term results of heart transplantation in patients with amyloid heart disease.

OBJECTIVE: To determine the outcome of heart transplantation for end stage amyloid heart disease in patients treated at a single centre. DESIGN: Records of all patients with amyloid heart disease who underwent heart transplantation were examined to determine survival, graft involvement by amyloid, the course of systemic amyloid disease, and the cause of death. PATIENTS: 10 patients, mean (SD) age 54 (8) years, received transplants in the 13 year period 1984 to 1997. RESULTS: Two patients, both with AL amyloid (primary systemic amyloidosis), died perioperatively. Mean follow up in the remaining eight patients was 49.9 (39.5) months (range 3-116 months). Amyloid deposits in the grafts became evident histologically in five patients with AL amyloid at 5, 11, 12, 28, and 30 months after transplantation, and in one patient with familial amyloid at 60 months. Echocardiography showed no evidence of left ventricular systolic impairment at the time of recurrence. Seven patients died, at 3, 11, 26, 32, 49, 85, and 116 months after transplantation; four of these deaths were related to amyloidosis. Actuarial survival at one and two years was 60% and at five years, 30%. CONCLUSIONS: Heart transplantation for amyloid heart disease remains controversial because of the scarcity of hearts for transplantation, the systemic nature of amyloidosis, and the potential for amyloid deposition in the graft. Postoperative mortality was high (20%), reflecting extracardiac amyloid. Heart transplantation for end stage cardiac amyloidosis is feasible but, without treatment of the underlying process, it is a palliative procedure.

Overlapping conditions among patients with chronic fatigue syndrome, fibromyalgia, and temporomandibular disorder.

BACKGROUND: Patients with chronic fatigue syndrome (CFS), fibromyalgia (FM), and temporomandibular disorder (TMD) share many clinical illness features such as myalgia, fatigue, sleep disturbances, and impairment in ability to perform activities of daily living as a consequence of these symptoms. A growing literature suggests that a variety of comorbid illnesses also may commonly coexist in these patients, including irritable bowel syndrome, chronic tension-type headache, and interstitial cystitis. OBJECTIVE: To describe the frequency of 10 clinical conditions among patients with CFS, FM, and TMD compared with healthy controls with respect to past diagnoses, degree to which they manifested symptoms for each condition as determined by expert-based criteria, and published diagnostic criteria. METHODS: Patients diagnosed as having CFS, FM, and TMD by their physicians were recruited from hospital-based clinics. Healthy control subjects from a dermatology clinic were enrolled as a comparison group. All subjects completed a 138-item symptom checklist and underwent a brief physical examination performed by the project physicians. RESULTS: With little exception, patients reported few past diagnoses of the 10 clinical conditions beyond their referring diagnosis of CFS, FM, or TMD. In contrast, patients were more likely than controls to meet lifetime symptom and diagnostic criteria for many of the conditions, including CFS, FM, irritable bowel syndrome, multiple chemical sensitivities, and headache. Lifetime rates of irritable bowel syndrome were particularly striking in the patient groups (CFS, 92%; FM, 77%; TMD, 64%) compared with controls (18%) (P<.001). Individual symptom analysis revealed that patients with CFS, FM, and TMD share common symptoms, including generalized pain sensitivity, sleep and concentration difficulties, bowel complaints, and headache. However, several symptoms also distinguished the patient groups. CONCLUSIONS: This study provides preliminary evidence that patients with CFS, FM, and TMD share key symptoms. It also is apparent that other localized and systemic conditions may frequently co-occur with CFS, FM, and TMD. Future research that seeks to identify the temporal relationships and other pathophysiologic mechanism(s) linking CFS, FM, and TMD will likely advance our understanding and treatment of these chronic, recurrent conditions.

Risk of lymphoid neoplasia after cardiothoracic transplantation. a cohort study of the relation to Epstein-Barr virus.

BACKGROUND: Organ transplantation is associated with a greatly increased risk of Epstein-Barr virus (EBV)-associated lymphoproliferative disease (LPD), which is often fatal. There has been little epidemiological analysis, however, of the risk factors for LPD in transplant patients and none on whether the risks of non-EBV-associated lymphoid neoplasms are also increased. METHODS: The risk of lymphoid neoplasia was assessed in a cohort of 1563 patients who underwent cardiothoracic transplantation at Harefield Hospital, UK from 1980 to 1994 and were followed until December 1995. EBV antibody was assessed in the patients before transplantation, and lymphoid neoplasms were assessed for EBV RNA and latent EBV gene expression. RESULTS: Thirty cases of LPD occurred during follow-up. One lymphoma of unknown EBV status occurred. There were also six cases of EBV-negative non-Hodgkin's lymphoma (EBV-negative NHL), a highly significant excess over expectations from the general population rates of NHL (standardized incidence ratio 10.2 [95% confidence interval, 4.6-22.8]). The risk of LPD was significantly 10-fold raised in individuals who were EBV seronegative before transplantation; independently of this, it decreased steeply with age at transplantation and was greatest in the first year after transplantation. The risk was significantly raised in young seronegative recipients if the donor was older than the recipient. EBV-negative NHL occurred entirely in men 45 years old and older who were EBV seropositive before transplantation, and risk was not related to duration since transplantation. CONCLUSIONS: The risk factors found for LPD accord with EBV etiology and with greater hazard from primary infection than from reactivation. A second non-Hodgkin's lymphoid neoplasm, not related to EBV, seems also to be a consequence of transplantation and immunosuppression but is unlikely to be due to first infection by a ubiquitous agent. Its etiology and prevention need investigation separately from LPD.

Reduced beta adrenoceptor density in vivo in human lung tumours: a preliminary study with positron emission tomography.

BACKGROUND: Reduced beta adrenergic receptor density in tumours has been reported in previous in vitro studies. The aim of the present study was to assess whether this occurs in vivo. METHODS: Pulmonary beta adrenoceptors were imaged and quantified in vivo using positron emission tomography (PET) and the beta antagonist radioligand (S)-[11C]CGP-12177 in five men with lung tumours of mean age 58 years (range 42-68). The histology of the tumours was squamous cell carcinoma in two cases, adenocarcinoma in one, carcinoid tumour in one, and large cell carcinoma in one. The regional blood volume and extravascular tissue density were also measured using PET. Regions of interest were drawn for both non-tumour and tumour lung tissue. RESULTS: The mean (SD) blood volume was 0.142 (0.025) ml/ml in tumour regions and 0.108 (0.010) ml/ml in normal lung regions--a difference of 31%. Mean (SD) extravascular tissue density was 0.653 (0.133) g/ml in tumour regions, substantially higher than in normal lung regions (0.157 (0.021) g/ml). On the contrary, beta receptor density was 5.1 (1.8) pmol/g in tumour regions, lower than the value of 9.9 (1.6) pmol/g found in adjacent normal lung--a difference of 48%. CONCLUSIONS: In vivo beta adrenoceptor density is reduced in human lung tumours.

Transbronchial biopsy in heart and lung transplantation: clinicopathologic correlations.

BACKGROUND AND METHODS: We reviewed and correlated the histologic and clinical records for the 1027 transbronchial biopsies performed, as clinically indicated, in 313 heart and lung transplant recipients in the Harefield Transplant Unit from 1988 through 1991. Three pieces of lower lobe or radiologically abnormal lung were routinely sent for histologic diagnosis. Clinical diagnoses of rejection and infection were based on symptomatologic, radiologic, and bacteriologic findings and response to appropriate therapy. Standard histopathologic technology and diagnostic criteria were used, including the Working Formulation for the standardization of nomenclature in the diagnosis of heart and lung rejection grading. RESULTS: Rejection was the most common finding (22.2%) and showed good clinicopathologic correlation. With unequivocal histologic features of rejection (Working Formulation grade A1 or above), specificity (clinical agreement with biopsy diagnosis) was 93.1% and sensitivity (clinical rejection confirmed by transbronchial biopsy) was 61%. Sensitivity increased to 77% if unsatisfactory specimens were excluded. Possible/probable rejection only was reported in 83 specimens; there were technically unsatisfactory, showed only minimal perivascular infiltrates, or had infiltrates limited to one vessel; 71% of these did have clinical rejection. Infection, excluding opportunistic, was reported in 18.5% of biopsy specimens; specificity was 70.5% and sensitivity 51.3% (both rising by 9%), with unsatisfactory specimens excluded. Histologic features of both rejection and infection were seen in 47 transbronchial biopsy specimens (4.7%). Where both components appeared definite specificity was 66.7%, but where either had been doubtful the clinical diagnosis was most often rejection. Sensitivity was also 66.7%. Cytomegalovirus inclusions were identified in 12.1% of biopsy specimens, with specificity of 91% and sensitivity of 83.5%. Sensitivity (88%) and specificity (100%) were both high for the 17 cases with pneumocystis infections. Sensitivity for the 25 transbronchial biopsy specimens from fungal infections was only 20%. Sensitivity was also poor (27.7%) in obliterative bronchiolitis, although specificity was 75%. Almost a third of transbronchial biopsy specimens from patients with obliterative bronchiolitis were unsatisfactory. Pneumonitis was the only change noted in 68 biopsy specimens. Most correlated with clinical status, but 26.5% were from patients with active rejection. Nonspecific changes or no significant pathologic condition was seen in 278 transbronchial biopsy specimens; over a third of these were from patients with clinical rejection (17.7%) or infection (18%) and 6.5% were from obliterative bronchiolitis cases. Excluding 78 technically unsatisfactory specimens reduced the proportion of false negative findings in rejection and infection by 6% and 4%, respectively. CONCLUSIONS: We found that transbronchial biopsies consisting of three adequate pieces of lung parenchyma correlated well with clinical rejections and infections other than fungal but was of limited value in confirming a diagnosis of obliterative bronchiolitis or fungal infection.