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. 2021 Feb 13;11(2):233.
doi: 10.3390/brainsci11020233.

Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome

Affiliations

Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome

Paolo Alfieri et al. Brain Sci. .

Abstract

Noonan syndrome (NS) is a dominant clinically variable and genetically heterogeneous developmental disorder caused by germ-line mutations encoding components of the Ras-MAPK signaling pathway. A few studies have investigated psychopathological features occurring in individuals with NS, although they were poorly analyzed. The aim of the present work is to investigate the psychopathological features in children and adolescents with NS focusing on depressive and hypo-manic symptoms. Thirty-seven subjects with molecularly confirmed diagnosis were systematically evaluated through a psychopathological assessment. In addition, an evaluation of the cognitive level was performed. Our analyses showed a high recurrence of attention deficit and hyperactivity disorder symptoms, emotional dysregulation, irritability, and anxiety symptomatology. The mean cognitive level was on the average. The present study provides new relevant information on psychopathological features in individuals with NS. The implications for clinicians are discussed including the monitoring of mood disorders in a clinical evolution.

Keywords: anxiety traits; attention deficit and hyperactivity disorder; deficient emotional self-regulation; irritability; mood; psychopathological features.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Prevalence of depressive symptoms in the children’s depression rating scale (CDRS-R) > 55 (CDRS-R+). Imp sc: Impaired schoolwork; Hav fun; Difficult having fun; Withd: Social withdrawal; Sleep: Sleep disturbance; Appetite: Appetite disturbance; Fatigue: Excessive fatigue; Physical: Physical complaints; Guilt: Excessive guilt; Self-esteem: Low self-esteem; Depressive: Depressive feeling; Morbid: Morbid ideation; Suicidal: Suicidal ideation; Weeping: Excessive weeping; Depr facial: Depressed facial affect; List speech: Listless speech.
Figure 2
Figure 2
Prevalence of depressive symptoms in CDRS-R < 55 (CDRS-R-). Imp sc: Impaired schoolwork; Hav fun; Difficult having fun; Withd: Social withdrawal; Sleep: Sleep disturbance; Appetite: Appetite disturbance; Fatigue: Excessive fatigue; Physical: Physical complaints; Guilt: Excessive guilt; Self-esteem: Low self-esteem; Depressive: Depressive feeling; Morbid: Morbid ideation; Suicidal: Suicidal ideation; Weeping: Excessive weeping; Depr facial: Depressed facial affect; List speech: Listless speech.
Figure 3
Figure 3
Prevalence of manic symptoms in the schedule for affective disorders and schizophrenia for school age children (K-SADS-MRS) > 12 (K-SADS-MRS+).
Figure 4
Figure 4
Prevalence of manic symptoms in K-SADS-MRS < 12 (K-SADS-MRS-).

References

    1. Shaw A.C., Kalidas K., Crosby A.H., Jeffery S., Patton M.A. The natural history of Noonan syndrome: A long-term follow-up study. Arch. Dis. Child. 2007;92:128–132. doi: 10.1136/adc.2006.104547. - DOI - PMC - PubMed
    1. Sharland M., Burch M., McKenna W.M., Paton M.A. A clinical study of Noonan syndrome. Arch. Dis. Child. 1992;67:178–183. doi: 10.1136/adc.67.2.178. - DOI - PMC - PubMed
    1. Allanson J.E. Noonan syndrome. J. Med. Genet. 1987;24:9–13. doi: 10.1136/jmg.24.1.9. - DOI - PMC - PubMed
    1. Roberts A.E., Allanson J.E., Tartaglia M., Gelb B.D. Noonan syndrome. Lancet. 2013;381:333–342. doi: 10.1016/S0140-6736(12)61023-X. - DOI - PMC - PubMed
    1. Tartaglia M., Mehler E.L., Goldberg R., Zampino G., Brunner H.G., Kremer H., van der Burgt I., Crosby A.H., Ion A., Jeffery S., et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 2001;29:465–468. doi: 10.1038/ng772. - DOI - PubMed