Borderline personality disorder (BPD) is characterized by a heterogeneous clinical phenotype that emerges from interactions among genetic, biological, neurodevelopmental, and psychosocial factors. In the present family study, we evaluated the familial aggregation of key clinical, personality, and neurodevelopmental phenotypes in probands with BPD (n = 103), first-degree biological relatives (n = 74; 43% without a history of psychiatric disorder), and non-psychiatric controls (n = 99).

Participants were assessed on DSM-IV psychiatric diagnoses, symptom dimensions of emotion dysregulation and impulsivity, ‘big five’ personality traits, and neurodevelopmental characteristics, as part of a larger family study on neurocognitive, biological, and genetic markers in BPD.

The most common psychiatric diagnoses in probands and relatives were major depression, substance use disorders, post-traumatic stress disorder, anxiety disorders, and avoidant personality disorder. There was evidence of familial aggregation for specific dimensions of impulsivity and emotion dysregulation, and the big five traits neuroticism and conscientiousness. Both probands and relatives reported an elevated neurodevelopmental history of attentional and behavioral difficulties.

These results support the validity of negative affectivity- and impulse-spectrum phenotypes associated with BPD and its familial risk. Further research is needed to investigate the aggregation of neurocognitive, neural and genetic factors in families with BPD and their associations with core phenotypes underlying the disorder.

Emotion dysregulation represents a core symptom of borderline personality disorder (BPD). Deficits in emotion perception are thought to underlie this clinical feature, although studies examining emotion recognition abilities in BPD have yielded inconsistent findings.

The results of 10 studies contrasting facial emotion recognition in patients with BPD (n = 266) and non-psychiatric controls (n = 255) were quantitatively synthesized using meta-analytic techniques.

Patients with BPD were less accurate than controls in recognizing facial displays of anger and disgust, although their most pronounced deficit was in correctly identifying neutral (no emotion) facial expressions. These results could not be accounted for by speed/accuracy in the test-taking approach of BPD patients.

Patients with BPD have difficulties recognizing specific negative emotions in faces and may misattribute emotions to faces depicting neutral expressions. The contribution of state-related emotion perception biases to these findings requires further clarification.