Understanding
Okur-Chung Neurodevelopmental Syndrome
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
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.