ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges

Abstract

ADNP syndrome is a neurodevelopmental disorder characterized by autism spectrum disorder (ASD), intellectual disability, sensory reactivity symptoms, facial dysmorphisms, and a wide variety of other physical and behavioral health manifestations. Research on ADNP syndrome has been limited, and there are currently no validated tools for assessing clinical outcomes in ADNP syndrome specifically. The goal of this qualitative study was to ascertain the symptoms of ADNP syndrome based on caregiver interviews, with the primary aim of identifying areas for clinical improvement that may inform the development of outcome measures specific to ADNP syndrome. Data collection consisted of loosely structured interviews with 10 caregivers of children with ADNP syndrome, representing 6 males and 4 females of ages 4 to 17 (M = 10.1; SD = 4.2). Interviews were conducted via phone between November 2020 and April 2021. The analysis of coded interview data identified three overarching themes: symptoms, therapies, and challenges. Each theme encompasses several distinct codes, which were individually addressed. Our results could ultimately be useful in educating clinicians about ADNP syndrome, selecting or designing refined outcome measures for clinical trials, and informing efforts to increase support for caregivers.

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

“…Thus, oppositional behavior may be the area most likely to warrant clinical support for this group. Indeed, emerging qualitative evidence from families of youth affected by ADNP variants highlights aggression and associated behaviors as both highly prevalent (endorsed by all families included) and among the most pressing stressors for caregivers [ 17 ]. Supports to address challenging behaviors may include medication as well as behavioral interventions that can elucidate the triggers and functions of challenging behaviors, but should also include speech/language therapy to reduce communication barriers that can contribute to externalizing behaviors [ 17 , 44 , 53 ].…”

NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms

“…ADNP syndrome (also known as Helsmoortel-Van Der Aa syndrome) is a rare condition characterized by autistic/intellectual disabilities, such as memory and communication problems and prominent sensory seeking and muscle weakness, accompanied by brain pathology and tauopathy [ 12 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 ]. The syndrome occurs when one allele of the ADNP gene undergoes a de novo mutation, resulting in the loss of normal functions [ 10 ] and expressing distinct mutation-specific epigenetic signatures [ 29 , 30 ], which may also be linked with differential phenotypic outcomes [ 31 ].…”