Research Explained: Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

Authors: Thomas W. Frazier, Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Eva Loth, Constance Smith-Hicks, Mustafa Sahin, Antonio Y. Hardan, Mirko Uljarevic, NET Development Project Team



Written By: Tierney Baum, PhD, Strategic R&D Consultant

Edited by:  Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation


Link to Paper


Research Explained Summary:


In this 2024 publication, researchers have developed an assessment tool called the Neurobehavioral Evaluation Tool (NET), which includes 11 different surveys that aim to help add to a growing understanding of neurobehavioral features and developmental strengths and weaknesses associated with specific neurodevelopmental genetic syndromes (NDGS).

Symptom Scales Subscales Skills/Functioning Scales Subscales
Anxiety Worry, social anxiety, physiological panic, separation anxiety, sensory anxiety Social communication/interaction Social motivation, basic social communication, perspective taking, relationships
ADHD Disorganization, distractibility, hyperactivity, impulsivity Executive functioning Sequencing, risk avoidance, emotion regulation, processing speed
Mood Irritability, hypomania, depressed affect, somatic symptoms Daily living skills Self-care, home-care, community participation
Restricted/repetitive behavior Repetitive motor, sensory interests, need for sameness, restricted interests, sensory sensitivity Motor Skills Basic motor skills, fine motor, speed/strength/stamina
Mood Irritability, hypomania, depressed affect, somatic symptoms Daily living skills Self-care, home-care, community participation
Challenging behavior Property destruction, aggression, elopement, conduct problems, self-injury Quality of Life (QoL) Financial, family, close support, distal support, physical and mental health, change
Sleep problems Bedtime resistance, restless sleep, difficulty waking, decreased sleep

Researchers were able to examine different NDGS using this brief and highly accessible tool and characterize unique profiles of cognitive, behavioral, and functional impairments of these disorders. This study highlights that by using NET it may be possible to understand syndrome specific neurobehavioral patterns.

 

This study surveyed 498 participants total from the following syndromes: 112 PTEN hamartoma tumor syndrome (PHTS), 47 SYNGAP1, 24 Malan Syndrome (NFIX), 72 other NDGS groups (13 CSNK2A1, 14 ADNP, 10 STBP1, 8 SCN2A, 11 GRIN2B, 8 HIVEP2, 6 MED13L), 54 Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD), and mood disorder, 72 siblings of NDGS individuals, 115 unrelated healthy controls

 

  • Other NDGS (CSNK2A1, ADNP, STBP, SCN2A, GRIN2B, HIVEP2, MED13L)
  • Extremely high elopement and self-injury
  • High restricted/repetitive behavior, distraction and disorganization, and restless sleep
  • High symptom levels for physiological/panic and sensory anxiety symptoms
  • Extremely low motor skills, processing speed, and perspective-taking
  • Low and very low basic social communication, relationships, sequencing, and daily living skills
  • Very low family and physical and mental health QoL

 

Thirteen individuals with CSNK2A1-specific syndrome were surveyed (as part of the Other NDGS group) and showed the following top 5 neurobehavioral symptoms compared to neurotypical individuals:

  • Decreased speed/strength/stamina
  • Decreased basic motor skills
  • Decreased processing speed
  • Decreased perspective taking
  • Increased self-injury

 

Researchers noted that reductions in basic motor skills, speed/strength/stamina, and processing were the most consistently impaired across disorders. They suggest that neurobehavioral skills that are heavily dependent on frontal cortex systems might be the most likely to be disrupted in neurodevelopmental disorders. This could be an important consideration for what analysis scales to use in future clinical research in OCNDS.