Highlights
- •We identified behavioural and psychiatric features in NS and related Noonan like-disorders.
- •The prevalence of ADHD and anxiety in children with NS is significantly greater than in the general Italian juvenile population.
- •ADHD disorder is present in individuals carrying mutation on all three genes (PTPN11, SOS1, SHOC2).
Abstract
Introduction
Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature,
skeletal and haematological/lymphatic defects, distinctive facies, cryptorchidism,
and a wide spectrum of congenital heart defects. Recurrent features also include variable
cognitive deficits and behavioural problems. Recent research has been focused on the
assessment of prevalence, age of onset and characterization of psychiatric features
in this disorder. Herein, we evaluated the prevalence of attention deficit and hyperactivity
disorder (ADHD), anxiety and depressive symptoms and syndromes in a cohort of individuals
with clinical and molecular diagnosis of NS.
Methods
The Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children
Present and Lifetime version (K-SADS PL) has been used for the assessment of psychiatric
disorders according to Diagnostic and Statistical Manual of Mental Disorders (DSM-IV).
Multidimensional Anxiety Scale for Children (MASC) and the Children's Depression Inventory
(CDI) have been assessed for the evaluation of anxiety and depressive symptoms and
syndromes, whereas Conners Teacher and Parent Rating Scales-long version (CRS-R) have
been used to evaluate ADHD.
Results
The study included 27 individuals (67% males) with an average age of 10.4 years (range
6–18 years) receiving molecular diagnosis of NS or a clinically related condition,
evaluated and treated at the Neuropsychiatric Unit of Children's Hospital Bambino
Gesù and at the Center for Rare Diseases of Fondazione Policlinico Universitario Agostino
Gemelli, in Rome. Twenty individuals showed mutations in PTPN11, five in SOS1 and two in SHOC2. The mean IQ was 94 (Standard Deviation = 17, min = 56, max = 130). Seventy percent
of the individuals (n = 19; 95% Confidence Interval = 52–85%) showed ADHD features,
with six individuals reaching DSM-IV-TR criteria for ADHD disorder, and thirteen showing
subsyndromal traits. Symptoms or syndrome of anxiety were present in 37% of the cohort
(n = 10; 95% Confidence Interval = 19–56%), with two individuals showing anxiety disorder
and eight cases exhibiting subsyndromal traits.
Conclusion
Our results show individuals with NS do present a very high risk to develop psychiatric
disorders or symptoms during paediatric age. Based on these findings, preschool assessment
of inattentive, hyperactivity/impulsivity and anxiety/depressive symptoms is recommended
in order to plan a personalized treatment for psychological/psychiatric issues in
affected individuals. Dedicated prospective studies are required to confirm the present
data and better characterize the psychopathological profile in NS.
Keywords
Abbreviations:
ADHD (Attention Deficit and Hyperactivity Disorder), CDI (Children's Depression Inventory), CI (Confidence Interval), CRS-R (Conners Teacher and Parent Rating Scales-long version), DSM-IV-TR (Diagnostic and statistical manual of mental disorder 4th ed., text rev.), K-SADS PL (Schedule for Affective Disorders and Schizophrenia Present and Lifetime version), ID (intellectual disability), NS (Noonan syndrome), NS-ML (Noonan syndrome with multiple lentigines)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: September 27, 2017
Accepted:
September 19,
2017
Received in revised form:
July 29,
2017
Received:
August 4,
2016
Identification
Copyright
© 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
