Cannabidiol as an adjunctive therapy for severe problem behaviors in autism with intellectual disability: a case report

2018 ◽  
Author(s):  
Natascia Brondinp ◽  
Laura Fusar-Poli
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Problem Behaviors ◽  
Adjunctive Therapy ◽  
Severe Problem

The right to effective treatment for people with developmental disabilities and severe problem behaviors.

2018 ◽  
Vol 18 (4) ◽  
pp. 436-447 ◽  
Author(s):  
Gabrielle T. Lee ◽  
Don E. Williams ◽  
Jason Simmons ◽  
Kate Johnson-Patagoc
Keyword(s):  
Developmental Disabilities ◽  
Effective Treatment ◽  
Problem Behaviors ◽  
Severe Problem ◽  
The Right

Positive Behavioral Support: New Foci in the Management of Challenging Behaviors

1992 ◽  
Vol 86 (8) ◽  
pp. 364-369 ◽  
Author(s):  
L.A. Sisson
Keyword(s):  
Problem Behaviors ◽  
Behavioral Control ◽  
Challenging Behaviors ◽  
Community Settings ◽  
Severe Problem ◽  
New Approach ◽  
Positive Behavioral Support ◽  
Life Styles ◽  
Functional Assessments ◽  
Positive Intervention

Individuals with visual impairments and multiple disabilities often exhibit severe problem behaviors that interfere with their acquisition of skills, limit access to integrated community settings, and cause harm to themselves or others. This article describes a new approach to behavioral control that uses positive intervention strategies, bases treatment on functional assessments of challenging responses, and emphasizes broad changes in the life-styles of individuals.

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

2016 ◽  
Vol 173 (3) ◽  
pp. 638-646 ◽  
Author(s):  
Arianna Tucci ◽  
Lidia Pezzani ◽  
Giulietta Scuvera ◽  
Luisa Ronzoni ◽  
Elisa Scola ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Cutis Verticis Gyrata

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

scholarly journals A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report

2019 ◽  
Vol 10 ◽  
Author(s):  
Fengchang Qiao ◽  
Binbin Shao ◽  
Chen Wang ◽  
Yan Wang ◽  
Ran Zhou ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
De Novo ◽  
De Novo Mutation ◽  
Chinese Case
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