Speech and oral motor skills in children with Beckwith Wiedemann Syndrome: Pre- and post-tongue reduction surgery

Tongue reduction surgery (TRS) has been advocated for children who have macroglossia associated with Beckwith Wiedemann Syndrome (BWS) to overcome, or reduce, the secondary effects of macroglossia. There are few reports describing the speech and oral motor characteristics in BWS, and no studies have systematically reported outcomes both pre- and post-operatively. The aims of this retrospective study were therefore to: systematically describe the speech and oral motor characteristics of this population pre- and post-operatively; to ascertain the effect TRS has on speech and oral motor skills and to discuss the presence of additional factors which may influence speech, and oral motor outcomes. Ten children with clinically confirmed BWS were assessed using a variety of standard clinical measures pre-operatively, three months post-operatively and at long-term follow up (mean age at follow-up after surgery 4.4 years). Results revealed that pre-operatively, speech was predominantly characterized by linguolabialization of bilabial consonants, and lingual blade production of alveolar and palatoalveolar consonants. These findings suggest that there are distinct articulatory errors caused by macroglossia. These errors were subsequently eliminated by TRS. Normal oral motor skills were present pre-operatively, and functional oral motor skills were found post-operatively with the exception of one case with co-occurring neurological impairment. Speech impairment unrelated directly to the macroglossia also occurred in the cohort. Assessment measures should take other factors into account when considering the aetiology of speech and oral motor impairment in this population.     

Estimating Effectiveness and Cost of Biologics for Rheumatoid Arthritis: Application of a Validated Algorithm to Commercial Insurance Claims

Purpose

The aim of this analysis was to implement a claims-based algorithm to estimate biologic cost per effectively treated patient for biologics approved for moderate to severe rheumatoid arthritis (RA).

Methods

This retrospective analysis included commercially insured adults (aged 18–63 years) with RA in a commercial database, who initiated biologic treatment with abatacept, adalimumab, etanercept, golimumab, or infliximab between 2007 and 2010. The algorithm defined effectiveness as having all of the following: high adherence, no biologic dose increase, no biologic switching, no new nonbiologic disease-modifying antirheumatic drug, no increased or new oral glucocorticoid use, and no more than 1 glucocorticoid injection. For each biologic, cost per effectively treated patient was defined as total drug and administration costs (from allowed amounts on claims), divided by the number of patients categorized as effectively treated.

Findings

Of 15,351 patients, 12,018 (78.3%) were women, and the mean (SD) age was 49.7 (9.6) years. The algorithm categorized treatment as effective in the first year for 30% (1899/6374) of etanercept, 30% (1396/4661) of adalimumab, 20% (560/2765) of infliximab, 27% (361/1338) of abatacept, and 29% (62/213) of golimumab treated patients. The 1-year biologic cost per effectively treated patient, as defined by the algorithm, was nominally lower for subcutaneously injected biologics than for infused biologics. The 1-year biologic cost per effectively treated patient, as defined by the algorithm, was lowest for etanercept ($49,952), followed by golimumab ($50,189), adalimumab ($52,858), abatacept ($71,866), and infliximab ($104,333).

Implications

Algorithm-defined effectiveness was similar for biologics other than infliximab. The 1-year biologic cost per effectively treated patient, as defined by the algorithm, was nominally lower for subcutaneously injected biologics than for infused biologics.     

Speech,language, and cognitive development in children with isolated sagittal synostosis

This study investigated the occurrence, nature, and severity of speech, language, and cognitive impairment in 76 children (61 males, 15 females) with isolated sagittal synostosis (ISS) aged 9 months to 15 years 7 months. There was no increased prevalence of global cognitive impairment in the group but there was a high prevalence rate of speech and/or language impairment with 28 (37%) displaying impairment of whom 20 (71%) had moderate or severe impairments that fulfilled the criteria for specific impairments. Prevalence rates were only increased for children over two years of age. Expressive language impairment occurred most frequently. Raised intracranial pressure, peri-neonatal risk factors, otitis media, or being operated were not associated with impairment. Surgery at a later age and a family history of speech and language impairment were both associated with impairments but numbers were small. The findings suggest that children with ISS are at an increased risk of developing speech and language impairment.     

Psychosocial, feeding, and drooling outcomes in children with beckwith wiedemann syndrome following tongue reduction surgery

Objective : Macroglossia is a common feature of Beckwith Wiedemann Syndrome (BWS). Tongue reduction surgery (TRS) is advocated to overcome, or reduce, the secondary effects of macroglossia. Macroglossia may affect a child's cosmetic appearance, feeding, and drooling function. However, no study has systematically reported on feeding, drooling, or psychosocial outcomes preoperatively and postoperatively in this group. This study aimed to describe the presurgical and postsurgical psychosocial, feeding, and drooling outcomes of children with macroglossia associated with BWS and to determine the effect of TRS on these areas. Design : Clinical cohort study. Participants : Ten consecutively admitted children with BWS (age at surgery from 9?months to 4?years, 9?months [4;9]; mean, 2;7) were assessed preoperatively, 3?months postoperatively, and at long-term follow-up. Main Outcome Measures : A parental report questionnaire, the Brodsky drooling scale, and a feeding rating scale. Results : Parents reported that macroglossia had a negative impact cosmetically that was ameliorated following surgery. Macroglossia caused a range of feeding difficulties presurgically by preventing lip seal and bolus manipulation during the oral preparatory phase. Excessive drooling was present in all cases presurgically. This resolved partially across the group postsurgically, with almost complete recovery at longer-term follow-up assessment. Conclusions : Presurgically, children show a common profile of feeding and drooling impairment with negative effects on cosmetic appearance. Our preliminary results demonstrate that TRS has a positive impact on these features with good outcomes for children with BWS.     

Reliability and validity of PROMIS measures administered by telephone interview in a longitudinal localized prostate cancer study

Purpose

To evaluate the reliability and validity of six PROMIS measures (anxiety, depression, fatigue, pain interference, physical function, and sleep disturbance) telephone-administered to a diverse, population-based cohort of localized prostate cancer patients.

Methods

Newly diagnosed men were enrolled in the North Carolina Prostate Cancer Comparative Effectiveness and Survivorship Study. PROMIS measures were telephone-administered pre-treatment (baseline), and at 3-months and 12-months post-treatment initiation (N = 778). Reliability was evaluated using Cronbach’s alpha. Dimensionality was examined with bifactor models and explained common variance (ECV). Ordinal logistic regression models were used to detect potential differential item functioning (DIF) for key demographic groups. Convergent and discriminant validity were assessed by correlations with the legacy instruments Memorial Anxiety Scale for Prostate Cancer and SF-12v2. Known-groups validity was examined by age, race/ethnicity, comorbidity, and treatment.

Results

Each PROMIS measure had high Cronbach’s alpha values (0.86–0.96) and was sufficiently unidimensional. Floor effects were observed for anxiety, depression, and pain interference measures; ceiling effects were observed for physical function. No DIF was detected. Convergent validity was established with moderate to strong correlations between PROMIS and legacy measures (0.41–0.77) of similar constructs. Discriminant validity was demonstrated with weak correlations between measures of dissimilar domains (?0.20–?0.31). PROMIS measures detected differences across age, race/ethnicity, and comorbidity groups; no differences were found by treatment.

Conclusions

This study provides support for the reliability and construct validity of six PROMIS measures in prostate cancer, as well as the utility of telephone administration for assessing HRQoL in low literacy and hard-to-reach populations.