ECHS1 deficiency and its biochemical and clinical phenotype.

ECHS1 gene encodes a mitochondrial enzyme, short-chain enoyl-CoA hydratase (SCEH). SCEH is involved in fatty acid oxidation ([Sharpe and McKenzie (2018); Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency, 7: 46]) and valine catabolism ([Fong and Schulz (1977); Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues, 252: 542-547]; [Wanders et al. (2012); Enzymology of the branched-chain amino acid oxidation disorders: The valine pathway, 35: 5-12]), and the dysfunction of SCEH leads to a severe Leigh or Leigh-like Syndrome phenotype in patients ([Haack et al. (2015); Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement, 2: 492-509]; [Peters et al. (2014); ECHS1 mutations in Leigh disease: A new inborn error of metabolism affecting valine metabolism, 137: 2903-2908]; [Sakai et al. (2015); ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome, 36: 232-239]; [Tetreault et al. (2015); Whole-exome sequencing identifies novel ECHS1 mutations in Leigh, 134: 981-991]). This study aims to further describe the ECHS1 deficiency phenotype using medical history questionnaires and standardized tools assessing quality of life and adaptive skills. Our findings in this largest sample of ECHS1 patients in literature to date (n = 13) illustrate a severely disabling condition causing severe developmental delays (n = 11), regression (n = 10), dystonia/hypotonia and movement disorders (n = 13), commonly with symptom onset in infancy (n = 10), classical MRI findings involving the basal ganglia (n = 11), and variability in biochemical profile. Congruent with the medical history, our patients had significantly low composite and domain scores on Vineland Adaptive Behavior Scales, Third Edition. We believe there is an increasing need for better understanding of ECHS1 deficiency with an aim to support the development of transformative genetic-based therapies, driven by the unmet need for therapies for patients with this genetic disease.

Who gets certified by the American Board of Professional Psychology and why: A diversity survey.

OBJECTIVE: To measure the profile of diversity among specialists certified by the American Board of Professional Psychology (ABPP). METHOD: A survey of ABPP specialists consisting of 18 demographic questions, and two questions regarding board certification and experience with diversity. RESULTS: Although ABPP specialists appear to be more diverse in certain aspects, especially regarding sex/gender (female, 43% vs 34% in prior survey), the majority remain non-Hispanic, White in race/ethnicity (87%), followed by only 3% Black, and 3% Hispanic/Latinx representation. Recognition as a specialist, job requirement, and professional expectations were the top three reasons for board certification. The top three themes regarding specialists' experiences with diversity were (a) Need for active outreach and mentoring, (b) ABPP does a good job regarding diversity, and (c) Make it more affordable. CONCLUSION: With the need for a competent and diverse workforce, ABPP will continue to conduct this survey to determine the progress that has been made in increasing the diversity of certified specialists.

Supporting a Youth with Cerebellar Ataxia into Adolescence.

CASE: Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia.At age 2, Zoe saw a neurologist and brain MRI revealed cerebellar atrophy. She recently saw a geneticist and genetic studies are pending. Parents report receiving "little" information regarding prognosis; through their own research, they read about individuals having similar symptoms in adulthood, with a degenerative pattern. They worry that Zoe is "still very young and we do not know what her future will be like."Despite ongoing speech and feeding challenges, the parents report difficulty finding a speech and language therapist in their area. Zoe does see an otolaryngologist for frequent otitis media and hearing loss and an ophthalmologist for vision problems. Still, she continues to fall further behind in school. Furthermore, she is intensely afraid of falling at school and has few friends, resulting in the family being at a loss regarding "what to do about school."She lives with both parents and 2 healthy older sisters. Her mother has Crohn's disease and has been unable to work. Her maternal aunt is close to Zoe and has hypothyroidism. Her father works as an insurance agent and resources have been "tight." Zoe's mother describes "making" Zoe go out to the movies, "otherwise she just stays home." Zoe usually needs assistance to walk in public, to keep from stumbling. Parents share that simply being in a public place or meeting a new physician may trigger emesis. Zoe does enjoy interacting with neighborhood children and says she wants to be "normal," wear nail polish, and date. She seeks independence, often refusing to use her wheelchair. Parents feel she requires more intensive occupational and physical therapy.On examination, she is very slender with hypertelorism and nystagmus. Holding an emesis bag, she gags intermittently, producing clear secretions. She has a notable tremor and walks slightly stooped with wide-based gait. Her few words demonstrate articulation differences and cognitive expression characteristic of a younger child. She wears light make-up and age-appropriate clothes. She asks, "When can I go home?"At the end of the visit, parents share their worry that Zoe is "so young and we do not know anything, what to expect, or what to tell her." As the family's new medical home, they ask you to weigh in on what to do next to best support her? Where do you begin?