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07/20/2020 Research Results Roundup — FORWARD Edition

Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome

Authors: Kendra E. Gilbertson, Hannah L. Jackson, Eric J. Dziuban, Stephanie L. Sherman, Elizabeth M. Berry-Kravis, Craig A. Erickson, and Rodolfo Valdez .

Summary

Only one in four children and young adults with FXS met the physical activity guidance from the U.S. Department of Health and Human Services (HHS), which recommends children 6–17 years-old get one hour of physical activity every day, while adults need about 2.5 hours per week.

Slightly more than half of the children and young adults with FXS met the recommendation for an annual influenza vaccination.

Almost three out of four children and young adults with FXS met dental care guidance from the American Academy of Pediatric Dentistry (AAPD). The AAPD recommends children have their first dental exam at the time of their first tooth eruption, or by one year of age, followed by regular exams every six months for children and adults.

About nine out of 10 children and young adults with FXS received the recommended immunizations between birth and 18 years of age.

Why This Is Important

This research can help clinicians identify preventive care services that patients with FXS may need and focus on educating parents on reaching recommended preventative care objectives.

What Are the Next Steps

Published in Disability and Health Journal, researchers from the Centers for Disease Control and Prevention and other organizations presented FORWARD data on preventive services received by children and young adults with FXS. This research can help clinicians identify preventive care services that patients with FXS may need. This research helps examine the barriers to preventive care as well as further research to help identify vulnerable groups and access to services.

Toilet Training in Fragile X Syndrome

Authors: Elizabeth Berry-Kravis, Sharon Kidd, Ave M. Lachiewicz, Tse Hwei Choo, Nicole Tartaglia, Devadrita Talapatra, Christina Aguirre-Kolb, Howard Andrews, and Karen Riley.

Summary

Toilet training issues can be burdensome and a significant problem for families with children affected by Fragile X syndrome (FXS). This groundbreaking study utilized FORWARD data on 633 individuals with FXS to fill the gap for much needed information on when children with FXS learn bladder and bowel toileting skills. By characterizing toileting milestones in children with FXS, this study helps to shed light on the factors causing delays in toilet training.

Language, behavioral irritability, and autism spectrum disorder (ASD) diagnoses presented as the main factors in predicting bowel and bladder training delays. ASD diagnosis and gender had a strong impact on age of toilet training. Males and individuals with a co-diagnosis of ASD showed a significant delay in learning toilet training skills. By five years of age, almost 100% of females achieve bladder toilet training versus 70% of females with a co-diagnosis of ASD. In comparison, about 50% of males with FXS alone achieved bladder training by age five and 35% of males with a co-diagnosis of ASD achieved bowel toilet training at the same age.

Why This Is Important

This important study will allow practitioners to inform families about the typical toilet training process and what to expect with toilet training efforts in a thoughtful, informed, and encouraging manner. These findings will help providers develop and evaluate specifically targeted toilet training approaches based on gender, ASD diagnosis, and other clinical features identified in this study.

What Are the Next Steps

The data presented in this report will serve as an important reference for evaluating the effectiveness of new toileting interventions in future research.

Dr. Jennifer Epstein presented on this topic using the FORWARD data in her presentation, “Toilet Training Across the Lifespan in FXS,” during the Fragile X Across the Lifespan event in the 17th NFXF International Fragile X Conference Virtual Series.

Pharmacologic Interventions for Irritability, Aggression, Agitation, and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis

Authors: Eleanor Eckert, Kelli Dominick, Ernest Pedapati, Logan Wink, Rebecca Shaffer, Howard Andrews, TseHwei Choo, Chen Chen, Walter E. Kaufmann, Nicole Tartaglia, Elizabeth Berry-Kravis, and Craig Erickson.

Summary

Behavioral dysregulation, or the impairment of behavioral processes, is common in FXS. A regularly cited group of behaviors in individuals with FXS, particularly males, is irritability, agitation, aggression, and self-injurious (IAAS) behaviors. These behaviors can put a strain on both the individual and their caregiver’s quality of life and there is little information about how to manage these behaviors with medication. This publication in the Journal of Autism and Developmental Disorders presented information from a FORWARD dataset involving 415 individuals with IAAS behaviors. The study describes the psychopharmacologic management of IAAS and examines the characteristics of individuals that are treated with drug therapy for IASS.

Findings showed that among the individuals with FXS that were exhibiting IAAS, those receiving drug treatment were more likely to be older males with significant intellectual disability. The individuals receiving drug treatment were also more likely to have comorbid autism, anxiety, hyperarousal, and social impairment. The medications most used in this population are antipsychotic medications, particularly aripiprazole and risperidone. Both aripiprazole and risperidone are FDA-approved for treating irritability associated with ASD. Individuals were also prescribed drugs outside of antipsychotic medications, including selective serotonin reuptake inhibitors (SSRIs), stimulants, non-SSRI antidepressants, alpha-agonists, mood-stabilizers, and anxiolytics. Most individuals (63%) did not experience side effects from their drug treatment.

Why This Is Important

This study contributes to the limited understanding of psychopharmacologic management of IAAS in FXS and will help guide future treatment.

What Are the Next Steps

A deeper analysis of long-term drug treatment of various target symptoms, more specific evaluation of each behavior within the IAAS symptom category, and more extensive analysis of drug tolerability over time.

Drs. Berry-Kravis and Erickson presented on this topic using the FORWARD data in her presentation, “Medications for Fragile X: Anxiety, Irritable Behaviors, Aggression,” during the Fragile X Across the Lifespan event in the 17th NFXF International Fragile X Conference Virtual Series.

Three fragile X specialty clinics are collecting supplemental information for FORWARD. They assess and collect longitudinal (over time) data on a group of tests to measure cognitive and behavioral function in the FXS population so that we can specifically understand the course of development in FXS. The two publications below were a result of those efforts.

Delineating Repetitive Behavior Profiles Across the Lifespan in Fragile X Syndrome

Brain Sci. 2020

Authors: Debra L. Reisinger, Rebecca C. Shaffer, Nicole Tartaglia, Elizabeth Berry-Kravis, and Craig A. Erickson.

Summary

Restricted and repetitive behaviors (RRBs) are a group of behaviors that include repetitive movements, inflexible adherence to routines, ritualistic behavior, restricted interests, and unusual sensory interests. RRBs are a known domain of ASD but also affect individuals with other neurodevelopmental disorders such as FXS. This study took at a look at what RRBs looked like in 154 individuals with FXS, 2–50 years old. Researchers examined the effect that age, ASD diagnosis, and IQ score had on RRB severity.

Unique RRB profiles emerging based on age and gender with increased severity of RRBs based on ASD diagnosis. Findings suggest a peak in RRBs between the ages of 7 and 12, the exception being sensory-motor behaviors, which appear to peak between the ages of 2 and 12 years old. An added diagnosis of ASD significantly increased repetitive behaviors in these individuals. IQ score alone did not seem to influence the presence of RRBs.

Why This Is Important

These findings contribute to specialists understanding of RRBs in FXS. Taking an individual’s diagnoses and sex into account may help clinicians assess and understand their restricted repetitive behaviors to form a treatment plan.

What Are the Next Steps

More research is needed to develop a deeper understanding of the effect IQ, gender, and ASD diagnosis have on the RRB profile of individuals with FXS and inform treatment. Looking at these behaviors over time may help professionals understand changes in RRBs in individuals with FXS over time.

Language Across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment

Brain Sci. 2020

Authors: Anne Hoffmann, Angel Wang, Natalie Berger, Lisa Corderio, Rebecca Shaffer, Nicole Tartaglia, Craig Erickson, and Elizabeth Berry-Kravis.

Summary

Although it is widely known that language development is delayed in the majority of individuals with FXS, there has been limited understanding on how to best assess language in FXS. This research examined the standard assessments commonly used to capture language and cognition in individuals with FXS. The research aimed to describe cognition and language in FXS using the data from a large group, while trying to understand if the standard assessments are feasible (able to be done accurately) and valid (reflect reality) in FXS and then compared the assessment results to caregiver report. Findings suggested:

  • Commonly used evaluations to measure language can be very difficult to use in FXS and may result in scores that are not useful or inaccurate. Because individuals with FXS generally have delays in their language development, age-specific evaluations often do not contain the properly lower ranged selection options needed to provide a useful score to properly assess abilities of those with FXS, resulting in many individuals receiving the lowest score possible on certain tests. This is called a floor effect. Because of this floor effect, it is not possible to gain important information such as the individual’s strengths and weaknesses. Administering these tests out of age range can lead to inability of comparison across other areas being evaluated and does not allow for comparisons to the general population.
  • When looking at language delays across ages, individuals ages 7–20 with FXS have a slower rate of progress relative to their peers who are typical. This delay in language development becomes more apparent as individuals become older.
  • The comparison between caregiver report and assessment report scores showed that caregivers portrayed language as being at a lower level than what the standardized assessment tests showed.
  • Most individuals with FXS are able to participate in standardized assessments. Behaviors are not a limiting factor, finding the best test to capture the individual is the challenge.

Why This Is Important

These results speak to the need for assessments that provide a wider range of items so individuals with FXS can achieve an accurate score and capture progress as they gain language skills. This study also shows the importance of clinical expertise when choosing assessments for individuals with FXS. The widely used assessments for language may overlook areas of relative strengths and weaknesses, which will make it difficult to determine appropriate intervention targets and capture any progress. Clinicians will likely need to combine several measures to determine an accurate language profile, especially for older individuals who are missing foundational language skills.

Lack of appropriate evaluation tools is a challenge for all populations with intellectual and developmental disabilities. As clinical trials continue to increase, so does the need for valid outcome measures. Possibilities for alternative assessment tools could include dynamic assessment (the assessment task is modified during testing depending on the participant’s abilities) and communication sampling (which provides a more natural view of communication abilities), which are both appropriate for a wide range of language abilities.

What Are the Next Steps

Future research should continue to explore alternative means of capturing skills accurately, as well as the development of standardized outcome measures that are appropriate for a wide range of language abilities.

Last Updated: 10/19/2020