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

Fastman, Jarrett / Kolevzon, Alexander

2023 Volume 10, Issue 3

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 ...

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.
Language	English
Publishing date	2023-03-20
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children10030593
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Article ; Online: Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome.

Gizzo, Luciana / Bliss, Geraldine / Palaty, Chrystal / Kolevzon, Alexander

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 134

Abstract: Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life.: Results: The Externally Led Patient-Focused ... ...

Abstract	Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results: The Externally Led Patient-Focused Drug Development (EL-PFDD) meeting was an opportunity for families affected by PMS to share with the Food and Drug Administration (FDA) how symptoms impact their lives and how treatments could be most meaningful. The Voice of the Patient report serves as a summary of this meeting to influence upcoming drug development and clinical trials. The purpose of this report is to provide a clinical perspective on the results of the EL-PFDD meeting to amplify the voice of these caregivers to the scientific community. Conclusions: Caregivers prioritize an improved quality of life for their loved ones characterized by improved cognitive function, improved communication, increased independence, and reduced risk of regression. With these caregiver priorities in mind, this report provides the FDA and the scientific community with a clear understanding of which aspects of PMS should influence the development of future therapeutics.
MeSH term(s)	Humans ; Caregivers ; Quality of Life ; Chromosome Disorders/genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 22
Language	English
Publishing date	2024-03-26
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-024-03141-w
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Article ; Online: Gait Abnormalities in Children with Phelan-McDermid Syndrome.

Frank, Yitzchak / Levy, Tess / Lozano, Reymundo / Friedman, Kate / Underwood, Slayton / Kostic, Ana / Walker, Hannah / Kolevzon, Alexander

Journal of child neurology

2023 Volume 38, Issue 13-14, Page(s) 665–671

Abstract: Background: ...

Abstract	Background:
MeSH term(s)	Child ; Humans ; Child, Preschool ; Adolescent ; Autism Spectrum Disorder/complications ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/epidemiology ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Chromosome Disorders/complications ; Chromosome Disorders/genetics ; Chromosome Deletion ; Gait ; Chromosomes, Human, Pair 22/genetics
Language	English
Publishing date	2023-10-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	639288-x
ISSN	1708-8283 ; 0883-0738
ISSN (online)	1708-8283
ISSN	0883-0738
DOI	10.1177/08830738231204395
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Article ; Online: Prenatal and perinatal metabolic risk factors for autism: a review and integration of findings from population-based studies.

Katz, Julia / Reichenberg, Abraham / Kolevzon, Alexander

Current opinion in psychiatry

2020 Volume 34, Issue 2, Page(s) 94–104

Abstract: Purpose of review: Given the ongoing rise in prevalence of autism spectrum disorder (ASD) and the challenges in developing and administering interventions to significantly alleviate ASD symptoms, there is an urgent need to identify modifiable risk ... ...

Abstract	Purpose of review: Given the ongoing rise in prevalence of autism spectrum disorder (ASD) and the challenges in developing and administering interventions to significantly alleviate ASD symptoms, there is an urgent need to identify modifiable risk factors for ASD. The goal of this review is to systematically evaluate the current evidence for an association between conditions related to maternal metabolic syndrome and risk for ASD in offspring focusing on methodically rigorous studies. Recent findings: In recent years, multiple studies explored the association between various conditions related to maternal metabolic syndrome (obesity, hypertension, or diabetes prior to, or with onset during pregnancy) and ASD risk in the offspring. Summary: Examining large, sufficiently powered, population-based epidemiological studies that explored the association between maternal metabolic syndrome and ASD, we found consistent evidence for an association between maternal preeclampsia and risk for ASD. Other conditions that are part of maternal metabolic syndrome, including maternal obesity, gestational weight gain, diabetes and gestational diabetes, should be studied further with careful attention paid to potential synergistic effects between different metabolic conditions. These findings highlight the need for rigorous, large, population-based epidemiological studies of potentially modifiable ASD risk factors that could inform public health interventions.
MeSH term(s)	Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/metabolism ; Autistic Disorder/epidemiology ; Autistic Disorder/metabolism ; Diabetes, Gestational/epidemiology ; Female ; Humans ; Metabolic Syndrome/epidemiology ; Obesity/epidemiology ; Perinatology ; Pregnancy ; Pregnancy Complications/epidemiology ; Risk Factors
Language	English
Publishing date	2020-11-12
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	645162-7
ISSN	1473-6578 ; 0951-7367
ISSN (online)	1473-6578
ISSN	0951-7367
DOI	10.1097/YCO.0000000000000673
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Article: Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.

Grice, Ariela S Buxbaum / Sloofman, Laura / Levy, Tess / Walker, Hannah / Ganesh, Gauri / de Los Santos, Miguel Rodriguez / Armini, Pardis / Buxbaum, Joseph D / Kolevzon, Alexander / Kostic, Ana / Breen, Michael S

medRxiv : the preprint server for health sciences

2024

Abstract: Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in ... ...

Abstract	Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the
Language	English
Publishing date	2024-01-31
Publishing country	United States
Document type	Preprint
DOI	10.1101/2024.01.29.24301949
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Article ; Online: Enhancing Child and Adolescent Psychiatry Recruitment Through a Medical Student Mentorship Network: A Qualitative Study.

Kishore, Anita / DiGiovanni, Madeline / Sun, Kevin Lee / Kolevzon, Alexander / Benoit, Laelia / Martin, Andrés

Academic psychiatry : the journal of the American Association of Directors of Psychiatric Residency Training and the Association for Academic Psychiatry

2022 Volume 47, Issue 2, Page(s) 124–133

Abstract: Objective: There is a shortage of psychiatrists necessary to meet the clinical needs of children and adolescents. Efforts over the past decade to enhance the workforce have had a limited impact. This study sought to identify the critical components of a ...

Abstract	Objective: There is a shortage of psychiatrists necessary to meet the clinical needs of children and adolescents. Efforts over the past decade to enhance the workforce have had a limited impact. This study sought to identify the critical components of a medical student mentorship network designed to increase recruitment into the subspecialty. Methods: The authors conducted interviews via synchronized videoconferencing of network site leaders and medical students at 14 schools throughout the USA. In addition, they analyzed verbatim transcripts using a thematic-phenomenological qualitative approach. Results: The authors interviewed thirty-eight program participants during seven focus group sessions: nine program directors and 29 medical students or graduates, a median of five participants per session. They constructed a framework consisting of two overarching domains, comprised of three themes each: (1) life cycle of a subspecialty mentorship network (Origins, Initiation, and Continuity); and (2) next steps to improve the program (Refining goals, Increasing accessibility, and Defining a path forward). Conclusion: Preliminary data have already documented the positive impact of participation in this mentorship program on medical student match rates into psychiatry. The qualitative model of this study provides a blueprint to develop, maintain, and optimize this and similar efforts aimed at increasing the child and adolescent psychiatry workforce.
MeSH term(s)	Adolescent ; Humans ; Child ; Mentors/psychology ; Adolescent Psychiatry/education ; Students, Medical/psychology ; Qualitative Research ; Psychiatry
Language	English
Publishing date	2022-09-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	1045331-3
ISSN	1545-7230 ; 1042-9670
ISSN (online)	1545-7230
ISSN	1042-9670
DOI	10.1007/s40596-022-01700-6
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Article ; Online: Comorbidities in autism spectrum disorder and their etiologies.

Khachadourian, Vahe / Mahjani, Behrang / Sandin, Sven / Kolevzon, Alexander / Buxbaum, Joseph D / Reichenberg, Abraham / Janecka, Magdalena

Translational psychiatry

2023 Volume 13, Issue 1, Page(s) 71

Abstract: Individuals with autism spectrum disorder (ASD), in addition to the core features of the disease, experience a higher burden of co-occurring medical conditions. This study sought to describe the frequency and distribution of comorbidit conditions in ... ...

Abstract	Individuals with autism spectrum disorder (ASD), in addition to the core features of the disease, experience a higher burden of co-occurring medical conditions. This study sought to describe the frequency and distribution of comorbidit conditions in individuals with ASD, and systematically evaluate the possibility that pre- and postnatal exposures (e.g., preterm birth, hypoxia at birth, traumatic brain injury, and fetal alcohol syndrome) associated with ASD may also be linked with distinct comorbidities. We used the SPARK study database, launched by the Simons Foundation Autism Research Initiative (SFARI). Comorbidities considered in the study included neurological, cognitive, psychiatric, and physical conditions. The study sample consisted of 42,569 individuals with ASD and their 11,389 non-ASD siblings (full and half siblings). Majority (74%) of individuals with ASD had at least one comorbidity, and had a greater average number of comorbidities than their non-ASD siblings. Preterm birth and hypoxia at birth were the most common peri-natal exposures in the sample. In logistic regression models adjusted for covariates, these exposures were associated with several distinct comorbidities in ASD cases, including attention and behavior problems, psychiatric and neurological disorders, and growth conditions. A similar pattern of association was also observed in non-ASD siblings. Our findings underscore that individuals with ASD experience a greater burden of comorbidities, which could be partly attributable to the higher rates of perinatal exposures compared to their non-ASD siblings. Study findings, if replicated in other samples, can inform the etiology of comorbidity in ASD.
MeSH term(s)	Infant, Newborn ; Pregnancy ; Female ; Humans ; Autism Spectrum Disorder/psychology ; Premature Birth ; Comorbidity ; Autistic Disorder ; Siblings/psychology
Language	English
Publishing date	2023-02-25
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2609311-X
ISSN	2158-3188 ; 2158-3188
ISSN (online)	2158-3188
ISSN	2158-3188
DOI	10.1038/s41398-023-02374-w
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Article ; Online: Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.

Levy, Tess / Pichardo, Thariana / Silver, Hailey / Lerman, Bonnie / Zweifach, Jessica / Halpern, Danielle / Siper, Paige M / Kolevzon, Alexander / Buxbaum, Joseph D

Human genetics

2023 Volume 142, Issue 9, Page(s) 1385–1394

Abstract: CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and dysmorphic features. ... ...

Abstract	CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and dysmorphic features. Deletions of the CHAMP1 gene, as part of 13q34 deletion syndrome, have been briefly described with the suggestion of a milder clinical phenotype. To date, no studies have directly assessed differences between individuals with mutations in CHAMP1 to those with deletions of the gene. We completed prospective clinical evaluations of 16 individuals with mutations and eight with deletions in CHAMP1. Analyses revealed significantly lower adaptive functioning across all domains assessed (i.e., communication, daily living skills, socialization, and motor skills) in the mutation group. Developmental milestones and medical features further showed difference between groups. The phenotypes associated with mutations, as compared to deletions, indicate likely difference in pathogenesis between groups, where deletions are acting through CHAMP1 haploinsufficiency and mutations are acting through dominant negative or gain of function mechanisms, leading to a more severe clinical phenotype. Understanding this pathogenesis is important to the future of novel therapies for CHAMP1 disorder and illustrates that mechanistic understanding of mutations must be carefully considered prior to treatment development.
MeSH term(s)	Humans ; Haploinsufficiency/genetics ; Prospective Studies ; Mutation ; Intellectual Disability/genetics ; Neurodevelopmental Disorders ; Phenotype ; Chromosomal Proteins, Non-Histone/genetics ; Phosphoproteins/genetics
Chemical Substances	CHAMP1 protein, human ; Chromosomal Proteins, Non-Histone ; Phosphoproteins
Language	English
Publishing date	2023-07-16
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-023-02578-6
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Article ; Online: An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study.

Ventola, Pamela / Jaeger, Judith / Keary, Christopher J / Kolevzon, Alexander / Adams, Maxwell / Keshavan, Bina / Zinger-Salmun, Celia / Ochoa-Lubinoff, Cesar

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

2023 Volume 47, Page(s) 35–40

Abstract: Purpose: Angelman Syndrome (AS) is a rare, severe neurogenetic disorder that causes symptoms such as intellectual disability and motor impairments and is typically diagnosed in early childhood. The complexity and heterogeneity of AS confound ... ...

Abstract	Purpose: Angelman Syndrome (AS) is a rare, severe neurogenetic disorder that causes symptoms such as intellectual disability and motor impairments and is typically diagnosed in early childhood. The complexity and heterogeneity of AS confound characterization of disease severity and pose unique challenges when determining an individual's response to treatment. There is therefore a substantial unmet need for rating scales specifically designed for complex conditions such as AS. To address this, the Clinical Global Impressions (CGI) scale, which has components for both symptom severity (CGI-S) and improvement (CGI-I) was specifically adapted to measure severity (CGI-S-AS) and improvement (CGI-I-AS) in AS. Methods: The modified CGI-S/I-AS was used in the NEPTUNE trial of gaboxadol for the treatment of AS. Here we report on the validation of the CGI-I-AS using data from NEPTUNE and discuss insights for its potential use in future trials. Results: Improvements in the CGI-I-AS rating tended to be consistent with changes on other relevant rating scales. Sleep-related symptoms were particularly well represented, while communication-related symptoms were not. Conclusions: Our validation analysis of the CGI-I-AS demonstrates its usefulness along with possible areas of improvement. The CGI-I-AS is a potential tool for use in other trials of AS drug candidates, and the process for its development can serve as a road map for the development of assessment tools for other neuropsychiatric disorders with similar complexities and heterogeneity.
MeSH term(s)	Child, Preschool ; Humans ; Angelman Syndrome/diagnosis ; Psychiatric Status Rating Scales ; Severity of Illness Index ; Treatment Outcome ; Clinical Trials as Topic
Language	English
Publishing date	2023-09-04
Publishing country	England
Document type	Journal Article
ZDB-ID	1397146-3
ISSN	1532-2130 ; 1090-3798
ISSN (online)	1532-2130
ISSN	1090-3798
DOI	10.1016/j.ejpn.2023.08.003
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Article ; Online: Association between parental psychiatric disorders and risk of offspring autism spectrum disorder: a Swedish and Finnish population-based cohort study.

Yin, Weiyao / Pulakka, Anna / Reichenberg, Abraham / Kolevzon, Alexander / Ludvigsson, Jonas F / Risnes, Kari / Lahti-Pulkkinen, Marius / Persson, Martina / Silverman, Michael E / Åden, Ulrika / Kajantie, Eero / Sandin, Sven

The Lancet regional health. Europe

2024 Volume 40, Page(s) 100902

Abstract: Background: Roughly more than one in six adults worldwide suffer from psychiatric conditions. Sporadic studies have associated parental psychiatric disorders with autism spectrum disorder in offspring. Comprehensively examining the association between ... ...

Abstract	Background: Roughly more than one in six adults worldwide suffer from psychiatric conditions. Sporadic studies have associated parental psychiatric disorders with autism spectrum disorder in offspring. Comprehensively examining the association between parental psychiatric disorders and offspring autism spectrum disorder is needed to guide health policies, and to inform etiologic studies. Methods: We included all children born in Sweden and Finland 1997-2016. Diagnoses were clinically ascertained from National Registers through 2017. We calculated adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs) for autism spectrum disorder in offspring of fathers and mothers with psychiatric disorders, in both parents jointly and across co-occurring conditions. Findings: Among 2,505,842 children, 33,612 were diagnosed with autism spectrum disorder, of which 20% had a parent with psychiatric disorders. The risk of autism spectrum disorder was increased across all psychiatric disorders in fathers (Sweden: aHR = 2.02, 95% CI = 1.92-2.12; Finland: aHR = 1.63, 95% CI = 1.50-1.77), mothers (Sweden: aHR = 2.34, 95% CI = 2.24-2.43; Finland aHR = 2.12, 95% CI = 1.92-2.28), or both parents (Sweden: aHR = 3.76, 95% CI = 3.48-4.07; Finland aHR = 3.61, 95% CI = 3.20-4.07), compared to neither parents. Co-occurrence of parental psychiatric disorders further increased risk (e.g., Sweden: for one, two or ≥three different diagnostic categories compared to no diagnosis, in fathers aHR = 1.81, 2.07, 2.52; in mothers aHR = 2.05, 2.63, 3.57). Interpretation: Psychiatric disorders in both parents conveyed the highest risk of offspring autism spectrum disorder, followed by mothers and then fathers. The risk increased with number of co-occurring disorders. All parental psychiatric disorders were associated with increased the risk of autism spectrum disorder. To reliably assess the risk of autism spectrum disorder in children, a comprehensive history incorporating the full range of parental psychiatric disorders is needed beyond solely focusing on familial autism spectrum disorder. Funding: Swedish-Research-Council-2021-0214.
Language	English
Publishing date	2024-04-23
Publishing country	England
Document type	Journal Article
ISSN	2666-7762
ISSN (online)	2666-7762
DOI	10.1016/j.lanepe.2024.100902
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