PURPOSE: To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. METHODS: Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments. RESULTS: Medical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with psychosis prodrome (15%), psychosis (20%), anxiety disorders (40%), and attention deficit-hyperactivity disorder (ADHD) (63%). Neuroimaging revealed structural anomalies of the posterior fossa, but on neurological exam study subjects displayed only mild or moderate motor vulnerabilities. CONCLUSION: By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.

Purpose: To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. Methods: 32 Individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments. Results: Medical manifestations were varied and reported across nearly every bodily system, with congenital heart defects (25%) the most severe and heterogeneous gastrointestinal symptoms (81%) the most common. Physical exam revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with schizophrenia prodrome (15%), psychosis (20%), anxiety disorders (40%) and ADHD (63%) . On neurological exam study subjects displayed only mild or moderate motor difficulties. Conclusions: By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.

Despite substantial efforts aimed at the detection and intervention for early symptoms of mental illness, there is relatively limited research on the clinical overlap between borderline personality disorder (BPD) and early psychosis, for example, clinical high risk (CHR) for psychosis, in young people. We present a narrative review of the clinical overlap between BPD and psychosis spectrum symptoms. Both conditions have unstable temporal course, and both are marked by functional impairment, increased suicide risk, and higher rates of psychiatric inpatient services. We then review evidence‐based treatments for psychosis and BPD, emphasizing treatments for early presentations of these symptoms and initial research considering treatments for the overlap. Psychotherapies with the strongest empirical support include cognitive behavioral models, with BPD showing limited response to adjunctive pharmacotherapy. We end by discussing specific recommendations for future research, including longitudinal studies to determine the predictors of the course of illness and the development of treatments to target comorbid BPD and CHR symptoms.

Aim This exploratory study reports on borderline symptomatology within a sample of individuals at clinical high risk for psychosis (CHR‐P) through a validated, self‐report instrument, the short version of the Borderline Symptom List (BSL‐23). Methods The sample consisted of 44 help‐seeking CHR‐P youth (ages 14–29 years) who completed an initial evaluation at a specialized clinic for psychosis‐risk. Results The mean BSL‐23 score was 1.5 (SD = 1.0, range 0.1–4.0). Higher scores were strongly associated with greater reported depressive symptoms (r = 0.84, p < 0.001). Additionally, borderline symptoms associated with attenuated positive symptoms (r = 0.32, p = 0.034) and social anxiety (r = 0.34, p = 0.027). Borderline symptomatology was not associated with role or social functioning. Conclusions This study is one of the first examinations of borderline symptomatology within a CHR‐P sample through a validated self‐report measure. Future research replicating these results is required to determine their robustness.

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