ArticleNeuropsychiatric disease and treatment2012
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?
Article in Neuropsychiatric disease and treatment, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Interventions for sleep difficulties in adults with an intellectual disability: a systematic review.Journal of intellectual disability research : JIDR · 2019Pooled it
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome.Journal of neurodevelopmental disorders · 2026Article
- Altered Neural Activity in the Mesoaccumbens Pathway Underlies Impaired Social Reward Processing in Shank3-Deficient Rats.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.Journal of neurodevelopmental disorders · 2024Article
- Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium.Molecular psychiatry · 2024Article
- Review
- Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries.Cellular and molecular neurobiology · 2022Review
- Opportunities for ABA intervention in Phelan-McDermid syndrome.International journal of developmental disabilities · 2022Article
- Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.Frontiers in genetics · 2022Article
- Case study: organizing outpatient pharmacological treatment of bipolar disorder in autism, intellectual disability and Phelan-McDermid syndrome (22q13.3 deletion syndrome).International journal of developmental disabilities · 2022Article
- Effects of Acupuncture at Neiguan in Neural Activity of Related Brain Regions: A Resting-State fMRI Study in Anxiety.Neuropsychiatric disease and treatment · 2022Article
- Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats.Molecular autism · 2020Article
- Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review.BMC medical genomics · 2020Review
- Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused byMolecular autism · 2018Article
- Reduced Efficacy of d-Amphetamine and 3,4-Methylenedioxymethamphetamine in Inducing Hyperactivity in Mice Lacking the Postsynaptic Scaffolding Protein SHANK1.Frontiers in molecular neuroscience · 2018Article
- Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.Journal of neurodevelopmental disorders · 2017Article
- Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.JCI insight · 2017Article
- Phelan-McDermid syndrome due toBMJ case reports · 2017Article
- A framework to identify contributing genes in patients with Phelan-McDermid syndrome.NPJ genomic medicine · 2017Article
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances, communication deficits, and motor perseverations. Data on psychological dysfunctions are so far not available. Previous studies have suggested that the loss of one copy of the gene SH3 and multiple ankyrin repeat domains 3 (SHANK3) is related to the neurobehavioral phenotype. Additional genes proximal to SHANK3 are also likely to play a role in the phenotype of patients with larger deletions. The present paper describes two adult brothers with an identical 2.15 Mb 22qter (22q13.32q13.33) deletion, of whom the youngest was referred for evaluation of recurrent mood changes. In both patients, magnetic resonance imaging of the brain showed hypoplasia of the vermis cerebelli. Extensive clinical examinations led to a final diagnosis of atypical bipolar disorder, of which symptoms fully remitted during treatment with a mood stabilizer. In the older brother, a similar psychopathological picture appeared to be present, although less severe and with a later onset. It is concluded that the behavioral phenotype of the 22q13.3 deletion syndrome comprises absent or delayed speech and perseverations with associated autistic-like features, whereas its psychopathological phenotype comprises an atypical bipolar disorder. The latter may have implications for the treatment regime of the syndrome-related behavioral disturbances.
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