scholarly journals The Need for Increased Study of Infants and Toddlers Later Diagnosed With Childhood Apraxia of Speech

Author(s):  
Megan Overby ◽  
Chantelle Highman

Purpose This article examines the need for increased research into the prelinguistic trajectory of childhood apraxia of speech (CAS). We discuss the significant gains made in the early identification of disorders such as autism spectrum disorder, fragile X syndrome, and Rett syndrome that have resulted through the study of early (i.e., prelinguistic) developmental behaviors of infants and toddlers at risk for these disorders. We suggest that notable gains in understanding CAS could be made by increasing investigative focus on infants and toddlers later diagnosed with CAS or who are at risk for it (i.e., have an older sibling diagnosed with the disorder). Conclusions Currently, there are few studies to guide clinical decision making for infants and toddlers who may have CAS. To address this gap, we present a call to action with recommendations for researchers and clinicians. We recommend more retrospective investigative designs be conducted, inclusive of retrospective parent questionnaires and retrospective home video analysis, as well as prospective longitudinal studies of at-risk infants. We suggest that studies not be limited to exploring an affected infant's vocal output, but that efforts be made to acquire a broad view of an affected infant's early developmental trajectory (e.g., social skills, eye gaze, and imitative skills). A more comprehensive understanding of CAS will guide clinicians not only in identification of the disorder but will inform treatment decisions as well.

2020 ◽  
Vol 5 (4) ◽  
pp. 831-842 ◽  
Author(s):  
Ruth Stoeckel ◽  
Susan Caspari

Purpose This article uses two case studies to illustrate clinical decision making using the best available evidence to approach the assessment and intervention for children with childhood apraxia of speech. The cases represent children seen in the authors' clinical practice, with personal information altered or omitted to protect the identity of the individuals. The case discussions exemplify choices that may be made for children of different ages, highlighting common elements across ages, as well as treatment aspects that may differ by age. Conclusions While research regarding best practice for assessment and treatment for childhood apraxia of speech has not been conclusive and, in fact, at times has been equivocal, there is empirical evidence from which to develop a rationale for assessment and treatment decisions. Accountability is important even as decisions are being made based on the best available evidence. In each case study, modifications in treatment depended on data that allowed the clinician to evaluate the children's response to therapy and adapt accordingly.


BMJ Open ◽  
2019 ◽  
Vol 9 (12) ◽  
pp. e033374 ◽  
Author(s):  
Daniela Balzi ◽  
Giulia Carreras ◽  
Francesco Tonarelli ◽  
Luca Degli Esposti ◽  
Paola Michelozzi ◽  
...  

ObjectiveIdentification of older patients at risk, among those accessing the emergency department (ED), may support clinical decision-making. To this purpose, we developed and validated the Dynamic Silver Code (DSC), a score based on real-time linkage of administrative data.Design and settingThe ‘Silver Code National Project (SCNP)’, a non-concurrent cohort study, was used for retrospective development and internal validation of the DSC. External validation was obtained in the ‘Anziani in DEA (AIDEA)’ concurrent cohort study, where the DSC was generated by the software routinely used in the ED.ParticipantsThe SCNP contained 281 321 records of 180 079 residents aged 75+ years from Tuscany and Lazio, Italy, admitted via the ED to Internal Medicine or Geriatrics units. The AIDEA study enrolled 4425 subjects aged 75+ years (5217 records) accessing two EDs in the area of Florence, Italy.InterventionsNone.Outcome measuresPrimary outcome: 1-year mortality. Secondary outcomes: 7 and 30-day mortality and 1-year recurrent ED visits.ResultsAdvancing age, male gender, previous hospital admission, discharge diagnosis, time from discharge and polypharmacy predicted 1-year mortality and contributed to the DSC in the development subsample of the SCNP cohort. Based on score quartiles, participants were classified into low, medium, high and very high-risk classes. In the SCNP validation sample, mortality increased progressively from 144 to 367 per 1000 person-years, across DSC classes, with HR (95% CI) of 1.92 (1.85 to 1.99), 2.71 (2.61 to 2.81) and 5.40 (5.21 to 5.59) in class II, III and IV, respectively versus class I (p<0.001). Findings were similar in AIDEA, where the DSC predicted also recurrent ED visits in 1 year. In both databases, the DSC predicted 7 and 30-day mortality.ConclusionsThe DSC, based on administrative data available in real time, predicts prognosis of older patients and might improve their management in the ED.


Author(s):  
S. Evelyn Stewart ◽  
Clare Bleakley

Appropriate OCD treatment has the potential to reverse negative impacts on the developmental trajectory of youth with this disease. First-line treatments for pediatric OCD have been well established, including cognitive behavior therapy (CBT), serotonin reuptake inhibitors (SRI), and the combination thereof. However, a significant proportion of OCD-affected youth do not achieve response or remission following initial treatment, and access to OCD-focused CBT treatment is often limited. Knowledge of CBT and SRI response predictors, mechanisms of action, and augmentation strategies for pediatric OCD should be exploited to guide individual clinical decision making. Further investigation is required to identify specific management approaches in treatment-resistant cases and putative OCD subtypes. This chapter summarizes proven first-line pharmacological and psychological treatments, discusses potential augmentation strategies, and suggests practical management tips for use in pediatric OCD.


Neurology ◽  
2018 ◽  
Vol 91 (16) ◽  
pp. e1498-e1507 ◽  
Author(s):  
Emma M. Devenney ◽  
Rebekah M. Ahmed ◽  
Glenda Halliday ◽  
Olivier Piguet ◽  
Matthew C. Kiernan ◽  
...  

ObjectiveThe aim of this study was to determine in a systematic manner if the C9orf72 phenotype might extend beyond frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) to include psychiatric disease.MethodsA validated semistructured family history interview was conducted in a large cohort of patients with FTD and ALS (n = 89), with and without the C9orf72 expansion (n = 29 and n = 60, respectively), encompassing 1,414 first- and second-degree relatives. Statistical analyses used both the hazard ratio (HR) and the relative risk ratio to determine the risk profiles within families.ResultsA significant HR of 4.9 (95% confidence interval [CI]: 1.9–13.9, p = 0.003) confirmed a higher probability of developing schizophrenia for relatives of C9orf72 carriers compared with noncarriers. In addition, 8 relatives of C9orf72 carriers experienced an episode of late-onset psychosis unrelated to schizophrenia, in comparison to one noncarrier (HR = 17.9, 95% CI: 2.2–143.2, p = 0.007). The probability of suicide was also significantly higher for family members of C9orf72 carriers (HR = 2.7, 95% CI: 1.2–6.2, p = 0.02). An HR of 2.7 (95% CI: 1.1–6.9, p = 0.03) indicated a higher probability of autism spectrum disorder (ASD) in family members of C9orf72 carriers, and this risk extended to FTD. Furthermore, there was a positive association between psychosis in probands and mental health disorders, including ASD in their family members (p = 0.04).ConclusionOverall, the results from this study suggest that a psychiatric phenotype exists within C9orf72 kindreds. Further studies should attempt to delineate the risk of psychiatric disorders in C9orf72 kindreds to aid in clinical decision making, particularly regarding genetic counseling, through collaborations between neurology and psychiatry.


2021 ◽  
Vol 6 (2) ◽  
pp. 375-383
Author(s):  
Taylor M. Brown ◽  
Becky S. Baas ◽  
Ruth E. Stoeckel ◽  
Lee A. Belf ◽  
Gayla L. Poling

Purpose Assessing children with hearing loss and co-occurring medical disorders can be challenging. The purpose of this clinical focus article is to highlight multidisciplinary decision making and evaluation considerations when assessing communication skills of children with hearing loss and co-occurring disorders: velopharyngeal insufficiency, childhood apraxia of speech, and autism spectrum disorder. Method Case examples are described to illustrate multidisciplinary decision-making processes for assessing the communication skills of children with hearing loss who have co-occurring velopharyngeal insufficiency, childhood apraxia of speech, or autism spectrum disorder. Conclusions Clinicians must have knowledge of speech sound development, language development, and social communication for differential diagnosis and treatment planning for children with hearing loss and co-occurring disorders. A team-based approach is recommended when assessing and treating children with hearing loss. Speech-language pathologists and audiologists should feel comfortable recommending other professionals to help with differential diagnosis and treatment considerations when appropriate. Continued assessment and monitoring by a multidisciplinary team for individuals with hearing loss is recommended across the life-span.


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