Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

Abstract

We report the case of a young boy with nonverbal autism and intellectual disability, with a rare de novo 1q21.3 microdeletion. The patient had early and extreme self-injurious behaviours that led to blindness, complicated by severe developmental regression. A significant reduction in the self-injurious behaviours and the recovery of developmental dynamics were attained in a multidisciplinary neurodevelopmental inpatient unit. Improvement was obtained after managing all causes of somatic pains, using opiate blockers and stabilizing the patient's mood. We offered both sensorimotor developmental approach with therapeutic body wrap and specific psychoeducation adapted to his blindness condition for improving his communication abilities.

Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation

“…During adolescence, he engaged in challenging behaviors. The individualized work done in the neurobehavioral unit on these behaviors of concern allowed a notable breakthrough (Guinchat et al 2015;Cravero et al 2017). Thereafter, DJ was able to go back to a medical educational institute and improved his receptive communication and autonomy skills.…”

Le syndrome ADNP (protéine neuroprotectrice dépendante de l’activité) lié à la déficience intellectuelle et aux troubles du spectre autistique : une revue de la littérature

“…À l'adolescence, il a présenté des comportements inappropriés aggravant son pronostic. Le travail individualisé effectué en unité neurocomportementale sur ces comportements préoccupants a permis une avancée notable (43,47). Les études de cas rapportent des améliorations des compétences développementales, en communication et en autonomie notamment, lorsque des rééducations fonctionnelles sont débutées dans l'enfance (11,24,23,34), avec pour notre patient sur 19 ans de suivi, des progrès visibles en fin d'adolescence lors des soins appropriés sont prodigués (11).…”

Therapeutic body wraps (TBW) for treatment of severe injurious behaviour in children with autism spectrum disorder (ASD): A 3-month randomized controlled feasibility study

“…A 10-minute-video presents video clips of the same child during several sessions both at session beginnings and session endings (available at http://doi.org/10.5281/zenodo.1157306 ). The clinical history of this child has been reported in [ 32 ]. The intervention was similar in the dry sheet pack control group, with the notable exception that the sheets were dry during all sessions.…”