Related Experiment Video
Updated: Aug 16, 2026
05:19
Practical Methodology of Cognitive Tasks Within a Navigational Assessment
Published on: June 1, 2015
Floating-Harbor syndrome. A neuropsychological approach
I P Davalos1, L E Figuera, L Bobadilla
1División de Genética, C.M.N.O. Instituto Mexicano del Seguro Social. Guadalajara Jalisco, México.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1996
Summary
Floating-Harbor Syndrome (FHS) is a rare genetic disorder. This case study highlights key characteristics including short stature, delayed bone age, language impairments, and distinctive facial features in a young girl.
Area of Science:
- Genetics
- Pediatrics
- Neurodevelopmental Disorders
Background:
- Floating-Harbor Syndrome (FHS) is a rare genetic disorder with limited documented cases.
- Understanding the full spectrum of FHS clinical manifestations is crucial for accurate diagnosis and management.
Observation:
- A six-year-old Mexican girl presented with short stature, delayed bone age, and language difficulties.
- Facial features included a triangular face and prominent nose, consistent with FHS.
- Neuropsychological evaluation revealed mild intellectual disability, constructive apraxia, and expressive/comprehensive language impairment.
Findings:
- Analysis of this case and 16 previously reported patients confirms FHS is characterized by proportionate short stature with significantly delayed bone age.
- Delayed expressive language development is a consistent finding in FHS.
- Distinctive facial features are a hallmark of Floating-Harbor Syndrome.
Implications:
- Early identification of FHS through characteristic features and developmental delays is essential.
- Comprehensive neuropsychological assessment aids in characterizing the cognitive and language deficits associated with FHS.
- Further research into FHS genetics and pathophysiology is warranted to develop targeted therapies.
Related Concept Videos
01:27Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within the...
01:27Language and Cognition
Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
01:27Horney's Sociocultural Approach
Karen Horney's psychoanalytic theories emphasize the potential for self-realization and the importance of addressing social and cultural, rather than biological, factors in personality development. She challenged traditional Freudian views, particularly Freud's concept of "penis envy," which she argued stemmed from cultural influences rather than inherent biological differences. Horney believed that any sense of inferiority in women was a result of societal conditioning, such as dependence on...
01:30Negative and Cognitive Symptoms of Schizophrenia
Negative symptoms of schizophrenia indicate a reduction or absence of typical behaviors and emotional responses found in healthy individuals, while positive symptoms reflect an excess or distortion of normal functioning.
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
Negative Symptoms
Negative symptoms of schizophrenia manifest as deficits in normal emotional and behavioral functioning, profoundly impacting daily life. Individuals with schizophrenia often display a flat affect, characterized by a near-total absence of emotional expression,...
01:30Positive Symptoms of Schizophrenia: Hallucinations and Delusions
Schizophrenia is a complex mental health disorder that can manifest with various positive symptoms, including thought, movement, and behavior disorders. These symptoms significantly disrupt cognitive and motor functions, leading to profound effects on an individual's ability to engage with the world.
Thought Disorders
Disorganized and unusual thought processes mark thought disorders in schizophrenia. One key feature is disorganized speech, where an individual's conversation includes loosely...
Thought Disorders
Disorganized and unusual thought processes mark thought disorders in schizophrenia. One key feature is disorganized speech, where an individual's conversation includes loosely...
01:29Hepatic Encephalopathy
DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...