recognizing-and-treating-catatonia-in-kleefstra-syndrome

Recognizing and Treating Catatonia in Kleefstra Syndrome

Kleefstra syndrome is a rare genetic disorder (less than 1 in 1,000,000) associated with a mutation of the euchromatic histone lysine methyltransferase 1 ...

University of Colorado

Children's Hospital Colorado

 To assess providers' knowledge, attitudes, perceptions, and experiences related to pharmacogenomic (PGx) testing in pediatric patients.  An electronic survey was sent to multidisciplinary healthcare providers at a pediatric hospital.  Of 261 respondents, 71.3% were slightly or not at all familiar with PGx, despite 50.2% reporting prior PGx education or training. Most providers, apart from psychiatry, perceived PGx to be at least moderately useful to inform clinical decisions. However, only 26.4% of providers had recent PGx testing experience. Unfamiliarity with PGx and uncertainty about the clinical value of testing were common perceived challenges.  Low PGx familiarity among pediatric providers suggests additional education and electronic resources are needed for PGx examples in which data support testing in children.

Providers' perspectives on the clinical utility of pharmacogenomic testing in pediatric patients.

To describe trends and clinical experiences in applying commercial pharmacogenetic testing among pediatric patients with neuropsychiatric disorders.

The Utility of Pharmacogenetic-Guided Psychotropic Medication Selection for Pediatric Patients: A Retrospective Study.

 Evidence for pharmacogenomic (PGx) guided treatment in child and adolescent psychiatry is growing. This study evaluated the impact of PGx testing on psychotropic medication prescribing in an ambulatory child and adolescent psychiatry and a developmental pediatrics clinic.  This was a single-center, retrospective, descriptive analysis of patients who underwent PGx testing between January 2015 and October 2022 at a child and adolescent psychiatry clinic or developmental pediatrics clinic. The primary outcome was the proportion of patients with at least one psychotropic medication modification made 6-month posttesting that could be attributed to CYP2C19, CYP2D6, HLA-B*15:02, or HLA-A*31:01. Secondary outcomes included reason for testing, types of therapeutic modifications made, and whether the therapeutic modifications concorded with PGx guidelines.  A total of 193 patients were analyzed. The average age was 10 ± 4 years old, 60% were male, 78% were Caucasian. Sixty-eight percent had a primary diagnosis of a neurodevelopmental disorder, namely autism spectrum disorder (51%), and attention-deficit/hyperactivity disorder (14%). The reasons for PGx testing included medication inefficacy (34%), medication intolerance (20%), and family request (19%). At the time of PGx testing, 37% of patients were taking ≥1 psychotropic medication with PGx annotation. Overall, 35 PGx-related therapeutic modifications were made in 32 (17%) patients. These included continuing current PGx medication (6.2%) and starting PGx medication (5.2%). These modifications mainly involved antidepressants. Out of these 35 PGx-related therapeutic modifications, 94% were concordant with PGx guidelines. Among 29 patients who were prescribed at least one CYP2D6 inhibitor, 25 (86%) underwent CYP2D6 phenoconversion.  It is critical to apply pediatric age-specific considerations when utilizing PGx testing in child and adolescent psychiatry. PGx testing stewardship could provide a framework to guide the clinical utility of PGx in a pediatric population with mental health conditions, including neurodevelopmental disorders.

Impact of Pharmacogenomics on Pediatric Psychotropic Medication Prescribing in an Ambulatory Care Setting.

Over half of youth with attention-deficit/hyperactivity disorder (ADHD) have co-occurring psychiatric or medical conditions that present treatment challenges. Stimulants are the most effective pharmacologic treatment of ADHD for preschoolers to adults but questions about safety with co-occurring conditions frequently arise. In addition, stigma surrounding diagnosis and treatment can negatively impact care. This manuscript presents evidence-based practice pearls to guide treatment decisions for youth with ADHD and common coexisting psychiatric and medical conditions. Recommendations address specific stimulant adverse effects (i.e., anxiety, cardiac, growth, mania, psychosis) along with management strategies. Pearls were developed for the most common clinical questions, controversial topics, or therapeutic issues that may not be widely known. The goals of this manuscript are to: 1) provide a detailed resource for interprofessional teams regarding stimulant use in youth with ADHD, 2) improve therapeutic outcomes for youth with ADHD and co-occurring psychiatric and/or medical conditions through evidence-based recommendations, and 3) decrease stigma associated with stimulant use through education.

Practice Pearls for Stimulant Treatment of Attention-Deficit/Hyperactivity Disorder in Youth.

Five Steps to Improve Cardiac Safety of Attention Deficit Hyperactivity Disorder Treatment.

Use of atypical antipsychotics in individuals with anorexia nervosa.

 Current standards for treatment of anorexia nervosa (AN) in children and adolescents include Family-Based Treatment and nutrition restoration. The use of aripiprazole for AN has been detailed through case series and one retrospective review analyzing the change in outcomes on body mass index and weight restoration. The goal of this descriptive study was to evaluate the impact of aripiprazole on food avoidant behaviors (FABs) and to describe prescribing patterns, including dosing and tolerability.  This was a retrospective, descriptive, matched, cohort study of pediatric patients with AN admitted to an eating disorders program (EDP) between January 1, 2018, and December 31, 2023. Patients were included in this study if they had a diagnosis of AN and were started on aripiprazole for eating disorder cognitions. Patients were matched 1:2 to a control group based on age, sex, and length of stay.  A total of 42 patients on aripiprazole were analyzed and matched to 84 controls. Aripiprazole was associated with a reduction in FABs with a mean change over the evaluated time period of 3.5 versus 0.9 ( = 0.026). The mean starting dose of aripiprazole was 1.9 mg/day, with a mean discharge dose of 2.8 mg/day. Aripiprazole was overall well-tolerated.  Aripiprazole was associated with an improvement in FABs among children and adolescents admitted to an EDP. Additionally, low-dose aripiprazole improved weight, likelihood of achieving target weight, and was well-tolerated.

Utility of Aripiprazole in the Treatment of Anorexia Nervosa in Children and Adolescents: A Retrospective, Descriptive, Matched Cohort Study.

The objective was to update the KIDs List, a list of drugs and excipients that are potentially inappropriate for use in pediatric patients, accounting for emerging pharmacologic agents and published evidence.

Article	Year
Providers' perspectives on the clinical utility of pharmacogenomic testing in pediatric patients. Pharmacogenomics\| PubMed ID: 33657875	2021
The Utility of Pharmacogenetic-Guided Psychotropic Medication Selection for Pediatric Patients: A Retrospective Study. Pediatric reports\| PubMed ID: 34449718	2021
Impact of Pharmacogenomics on Pediatric Psychotropic Medication Prescribing in an Ambulatory Care Setting. Journal of child and adolescent psychopharmacology\| PubMed ID: 38377527	2024
Practice Pearls for Stimulant Treatment of Attention-Deficit/Hyperactivity Disorder in Youth. The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG\| PubMed ID: 38863854	2024
Five Steps to Improve Cardiac Safety of Attention Deficit Hyperactivity Disorder Treatment. The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG\| PubMed ID: 39659855	2024
Use of atypical antipsychotics in individuals with anorexia nervosa. The mental health clinician\| PubMed ID: 39974757	2025
Utility of Aripiprazole in the Treatment of Anorexia Nervosa in Children and Adolescents: A Retrospective, Descriptive, Matched Cohort Study. Journal of child and adolescent psychopharmacology\| PubMed ID: 40537086	2025
Pediatric Pharmacy Association 2025 KIDs List of Key Potentially Inappropriate Drugs in Pediatrics. The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG\| PubMed ID: 40821415	2025

Danielle Stutzman

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