Related Experiment Video

Updated: Jul 15, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Developmental and behavioural phenotype in Noonan syndrome?

K Sarimski1

  • 1Kinderzentrum München, Germany.

Genetic Counseling (Geneva, Switzerland)
|January 5, 2001
PubMed

Insights

Noonan syndrome can cause developmental and behavioral issues in nearly half of affected children. However, the study does not identify a specific behavioral phenotype, highlighting the need for family support.

Area of Science:

  • Pediatrics
  • Genetics
  • Developmental Psychology

Background:

  • Noonan syndrome presents with characteristic facial dysmorphology, congenital heart defects, short stature, and developmental delays.
  • Many affected individuals experience severe early feeding disorders.
  • Understanding the developmental and behavioral aspects is crucial for comprehensive care.

Purpose of the Study:

  • To investigate the developmental and behavioral phenotype in children with Noonan syndrome.
  • To determine if a specific behavioral phenotype exists in Noonan syndrome.
  • To identify the need for psychological support for families.

Main Methods:

  • A postal survey was conducted among families of 26 children diagnosed with Noonan syndrome.
  • Data collected included physical development, feeding difficulties, developmental problems, and behavioral aspects.
  • Statistical analysis was used to evaluate the findings.

Main Results:

  • Developmental and behavioral difficulties were reported in 46% of the surveyed children.
  • The findings do not support the existence of a distinct behavioral phenotype specific to Noonan syndrome.
  • Early challenges related to surgery, feeding, development, and behavior are common.

Conclusions:

  • Children with Noonan syndrome frequently experience developmental and behavioral challenges.
  • A specific behavioral phenotype for Noonan syndrome is not supported by this data.
  • Psychological counseling is recommended for families managing the complexities of Noonan syndrome.

More Related Videos

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)10:47

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells (NPCs)

Published on: March 2, 2018

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings.
Oppositional Defiant Disorder01:30

Oppositional Defiant Disorder

A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
Diagnostic Criteria and...
Conduct Disorder01:28

Conduct Disorder

Conduct disorder is a complex mental health diagnosis characterized by a repetitive and persistent pattern of behavior that violates societal norms, the rights of others, or age-appropriate rules. The diagnostic criteria for conduct disorder require the presence of at least three problematic behaviors within the past 12 months, with at least one occurring in the past six months. These behaviors are grouped into four categories: aggression toward people and animals; destruction of property;...