Psychopathological features in Noonan syndrome

Perrino, Francesca; Licchelli, Serena; Serra, Giulia; Piccini, Giorgia; Caciolo, Cristina; Pasqualetti, Patrizio; Cirillo, Flavia; Leoni, Chiara; Digilio, María Cristina; Zampino, Giuseppe; Tartaglia, Marco; Alfieri, Paolo; Vicari, Stefano

doi:10.1016/j.ejpn.2017.09.009

Cited by 30 publications

(46 citation statements)

References 37 publications

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“…Past research on NS has reported a frequency of clinically elevated symptoms of anxiety/depression of somewhere between 16 and 32% (Alfieri et al, ; Pierpont et al, ). The current results corroborate earlier studies reporting that many children with RASopathies have “subclinical” symptoms based on questionnaire measures that may not be severe enough to warrant a diagnosis (e.g., Perrino et al, ), but may nevertheless impact a child's well‐being.…”

Section: Discussionsupporting

confidence: 90%

“…Among our NS cohort, parent ratings of anxiety symptomatology indicated clinically significant symptoms in 8% of the sample and moderate elevations (subclinical anxiety) in 26%. This rate is closely matched to the frequency of anxiety reported in a recent study that utilized diagnostic evaluations, which reported rates of 8% and 30% for clinical and subclinical levels of anxiety, respectively (Perrino et al, ). In contrast to parent ratings, child self‐report measures in our study only revealed rates of 5% (clinical) and 14% (subclinical).…”

Section: Discussionsupporting

confidence: 82%

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Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

McNeill

Hudock

Foy

et al. 2019

American J of Med Genetics Pt A

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While neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are clinically distinct genetic syndromes, they have overlapping features because they are caused by pathogenic variants in genes encoding molecules within the Ras-mitogen-activated protein kinase signaling pathway. Increased risk for emotional and behavioral challenges has been reported in both children and adults with these syndromes. The current study examined parent-report and self-report measures of emotional functioning among children with NF1 and NS as compared to their unaffected siblings. Parents and children with NS (n = 39), NF1 (n = 39), and their siblings without a genetic condition (n = 32) completed well-validated clinical symptom rating scales. Results from parent questionnaires indicated greater symptomatology on scales measuring internalizing behaviors and symptoms of attention deficit hyperactivity disorder (ADHD) in both syndrome groups as compared with unaffected children. Frequency and severity of emotional and behavioral symptoms were remarkably similar across the two clinical groups. Symptoms of depression and anxiety were higher in children who were also rated as meeting symptom criteria for ADHD. While self-report ratings by children generally correlated with parent ratings, symptom severity was less pronounced. Among unaffected siblings, parent ratings indicated higher than expected levels of anxiety. Study findings may assist with guiding family-based interventions to address emotional challenges. K E Y W O R D Sanxiety, depression, emotional function, neurofibromatosis type 1, Noonan syndrome, RASopathies

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 82%

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

McNeill

Hudock

Foy

et al. 2019

American J of Med Genetics Pt A

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“…The higher levels of emotional and internalizing dysfunction in patients with NS are consistent with previous reports of anxiety and mood problems in NS and in accordance with our hypotheses (Noonan, 2005;Perrino et al, 2018;Smpokou et al, 2012;Wingbermühle et al, 2012a). The results of the current study showed that especially higher levels of demoralization were characteristic for the difference between patients with NS and controls.…”

Section: Discussionsupporting

confidence: 93%

“…Regarding psychopathology in NS, internalizing and externalizing behavioural problems have been frequently reported by parents of children with NS (Alfieri et al, 2014;Garg et al, 2017;Pierpont, Tworog-Dube, & Roberts, 2015;Sarimski, 2000;Van der Burgt et al, 1999;Wood, Massarano, Super, & Harrington, 1995). Although anxiety and mood problems have been described rather frequently (Noonan, 2005;Smpokou, Tworog-Dube, Kucherlapati, & Roberts, 2012;Wingbermühle et al, 2012a;Pierpont et al, 2015;Perrino et al, 2018) and the prevalence of symptoms of Attention Deficit-Hyperactivity Disorder and Autism Spectrum Disorder seems to be higher in children and adolescents with NS than in the general population (Adviento et al, 2014;Alfieri et al, 2014;Garg et al, 2017;Perrino et al, 2018;Pierpont et al, 2015;Smpokou et al, 2012), only few systematic studies regarding psychopathology in adults with NS are yet available. In a previous study of our research group, significantly higher levels of self-reported distress in social situations-but equal levels of social avoidant behaviour-were found in adults with NS in comparison with controls, as well as higher levels of anger-hostility and obsessive-compulsive complaints, mostly reflecting subjective cognitive difficulties (Wingbermühle et al, 2012a).…”

Section: Introductionmentioning

confidence: 99%

Personality and Psychopathology in Adults with Noonan Syndrome

Roelofs

Wingbermühle

Heijden

et al. 2019

J Clin Psychol Med Settings

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This is the first controlled study regarding personality and psychopathology in adults with Noonan syndrome (NS). Anxiety, depression, alexithymia and symptoms of Attention Deficit-Hyperactivity Disorder and Autism Spectrum Disorder, have been previously described in NS. More information regarding personality and psychopathology in NS could improve mental health care for this population. Therefore, scores on the Minnesota Multiphasic Personality Inventory-2-Restructured Form (MMPI-2-RF), a widely used self-report questionnaire of personality and psychopathology, were compared between patients with NS (n = 18) and matched, healthy controls (n = 18). Furthermore, correlations between MMPI-2-RF scores and alexithymia, measured by the Toronto Alexithymia Scale-20, were investigated. Patients with NS showed significantly higher scores, with medium effect sizes, on MMPI-2-RF scales reflecting infrequent responses (F-r), somatic and cognitive complaints (FBS-r and RBS-r), internalizing problems (EID), demoralization (RCd) and introversion (INTR-r), although the overall profile in both groups was within the non-clinical range. Alexithymia correlated with internalizing problems and negative emotionality in the patient group. In conclusion, patients with NS showed higher levels of introversion, which may predispose them to internalizing problems. These problems were indeed more frequent in patients with NS, especially higher levels of demoralization. Patients may benefit from psychological interventions aimed to decrease internalizing problems, introversion and alexithymia.

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“…For clinicians, the diagnostic process of pain detection can be challenging in individuals with RASopathies and can be limited by the presence of a behavioral component such as attention deficit and hyperactivity disorder (ADHD), anxiety/depressive symptoms (Perrino et al, ), autistic‐like behavior (Alfieri et al, ).…”

Section: Discussionmentioning

confidence: 99%

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

Leoni

Vollono

Onesimo

et al. 2019

American J of Med Genetics Pt A

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Pain in individuals with RASopathies is a neglected topic in literature. In this article, we assessed prevalence and profile of pain in a sample of 80 individuals affected by RASopathies. The study sample included individuals with Noonan syndrome (N = 42), Costello syndrome (N = 17), and cardio-facio-cutaneous syndrome (N = 21). A set of standardized questionnaires and scales were administered (VAS/numeric scale, r-FLACC, Wang-Baker scale, NPSI, BPI, NCCPC-R) to detect and characterize acute and chronic pain and to study the influence of pain on quality of life (PEDs-QL, SF-36) and sleeping patterns (SDSC); revision of past medical history and multisystemic evaluation was provided. Available clinical data were correlated to the presence of pain. High prevalence of acute (44%) and chronic (61%) pain was documented in the examined sample. Due to age and intellectual disability, acute pain was localized in 18/35 individuals and chronic pain in 33/49. Muscleskeletal and abdominal pain was more frequently reported. The intensity of acute and chronic pain interfered with daily activities in 1/3 of the sample. Pain negatively impacted on QoL and sleeping patterns. This work documents that pain is highly prevalent in RASopathies. Future studies including subjective and objective measures of pain are required to discriminate a somatosensory abnormality from an abnormal elaboration of painful stimuli at a central level. K E Y W O R D S cardiofaciocutaneous syndrome, costello syndrome, Noonan syndrome, pain, RASopathies

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Psychopathological features in Noonan syndrome

Cited by 30 publications

References 37 publications

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

Personality and Psychopathology in Adults with Noonan Syndrome

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients

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