FOXP1 Syndrome

Glossary of Terms

A working glossary for families and clinicians — covering medical, genetic, behavioral, and therapy vocabulary you’ll encounter on your FOXP1 journey.

74 terms

A

AAC
Augmentative and Alternative Communication.
ABA
Applied Behavior Analysis.
AFO
Ankle-Foot Orthotic. A hard, molded plastic brace that provides rigid support for the foot, heel, ankle, and calf.
ASD
Autism Spectrum Disorder.
Atrial Septal Defects
A hole in the wall of the heart between the upper two chambers.
Autism
A developmental disorder of variable severity characterized by difficulty in social interaction and communication and by restricted or repetitive patterns of thought and behavior.
Autistic Traits
Characteristics of ASD that may include problems with social interaction, ritualistic behaviors, repetitive movements, or a variety of abilities.

B

BCBA
Board Certified Behavior Analyst.

C

Cardiologist
Specialist in heart diseases and abnormalities.
CBT
Cognitive Behavior Therapy.
Chromosome
A threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
Comorbidity
More than one condition or disease occurring at the same time.
Congenital Defect
Also known as congenital anomaly. A physical defect present at birth.

D

De Novo
A genetic variant that occurs for the first time in one family member.
Developmental Disabilities
A group of conditions due to an impairment in physical, learning, language, or behavior areas. These conditions begin during the developmental period, may impact day-to-day functioning, and usually last throughout a person’s lifetime.
Developmental Pediatrician
A pediatrician specialized in children with developmental disorders.
DME
Durable Medical Equipment.
DNA
A self-replicating material present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information.
Dysmorphism
Abnormality in the development of a structure. May refer to a facial feature.
Dysplasia of the Hip
Hip dislocation.

E

Early Intervention
Providing early support to children who are at risk of poor outcome.
Enuresis
Involuntary urination.
Expressive Language
How a person uses words or non-verbal communication to express themselves.
Externalizing Symptoms
Exhibit themselves in delinquent and aggressive behavior, or hyperactivity.

F

FBA
Functional Behavior Assessment.
Fine Motor Skills
The coordination of small muscles in movements — usually involving the synchronization of hands and fingers — with the eyes. Includes skills such as grasping and writing.
FOXP1
Refers to the gene and syndrome in humans.
FOXP1 (italics)
In italics, refers to the protein, not the gene itself.

G

G Tube
Gastrostomy tube. A tube inserted directly into the stomach that provides fluid and nutrition.
Geneticist
A biologist who studies genetics, the science of genes, and diagnoses and manages gene disorders.
Global Developmental Delay
When a child takes longer to reach certain developmental milestones.
Gross Motor Skills
Skills that involve the whole body — your core muscles and the muscles of your arms and legs used for walking or jumping.

H

Haploinsufficiency
Inactivation of one copy of a gene.
Hippotherapy
A therapy done riding a horse. The belief is that it will not only provide enjoyment but also strengthen muscles that traditional physical therapy cannot reach.
Hypersensitivity
Undesirable reactions produced by the normal immune system, including allergies and autoimmunity.
Hypertonia
An abnormally high level of muscle tone or tension.
Hypoacusis
Hearing loss.
Hypothyroidism
A condition in which the thyroid gland does not produce enough of certain crucial hormones.
Hypotonia
An abnormally low level of muscle tone.

I

IDD
Intellectual and Developmental Disability.
IEP
Individual Education Plan.
Intellectual Disability
Below average intelligence and a set of life skills present before age 18.
Internalizing Symptoms
Anxiety and depression.

M

Macrocephaly
Refers to an overly large head.
Mutation
The changing of the structure of a gene.

N

Natural History Study
A study that follows a group of people over time, collecting health information.
Nervous System
A complex network of nerves and cells that carry messages to and from the brain and spinal cord to various parts of the body.
Neurodevelopmental Disorder
A group of disorders that affect the development of the nervous system, leading to abnormal brain function.
Neurologist
A physician who deals with the diagnosis and treatment of conditions and diseases involving the central and peripheral nervous systems.
Neurosurgeon
A physician who specializes in the diagnosis and surgical treatment of disorders of the central and peripheral nervous system.
Nucleotide
Organic molecules consisting of a nucleoside and a phosphate, which form the base unit of DNA.

O

Occupational Therapy
Therapy that helps people participate in the things they want and need to do — such as fine motor skills, self-care, writing, or hand-eye coordination.
Ophthalmologist
A physician who deals with the study and treatment of disorders and diseases of the eye.
OT
Occupational Therapy.
Otitis Media
Inflammation or infection in the ear.

P

Person Directed Plan
A tool to help create meaningful life goals and find community connections with the help of important people in your life.
Physical Therapy
Treatment of disease, injury, or deformity by physical methods such as massage, heat treatment, and exercise rather than by drugs or surgery.
Pragmatic Language
Refers to the social language skills used in daily interactions — what we say, how we say it, and our non-verbal communication.
PT
Physical Therapy.
Pulmonary
Relating to the lungs.

R

Receptive Language
Refers to how a person understands language.

S

Sensory Diet
A group of activities specifically scheduled into a child’s day to assist with attention, arousal, and adaptive responses.
SLI
Speech and Language Impairment.
SLP
Speech and Language Pathologist.
SPD
Sensory Processing Disorder.
Special Education
The practice of educating students in a way that addresses their individual differences and specific needs.
Speech Therapist
A specialist in the development of oral and motor skills and communication.
Strabismus
A condition in which the eyes are not lined up properly and they point in different directions. Also known as crossed eyes.
Syndrome
A number of symptoms occurring together and characterizing a specific disease.

T

Transcription Factors
The set of instructions that bind DNA to regulate the expression of other genes.
Trunk
The part of the body to which the legs, arms, and head are attached.

U

Urologist
The field of medicine that focuses on diseases of the urinary tract and the male reproductive tract.

V

Visual Refractive Error
Vision problems.

W

Whole Exome Sequencing
A genomic technique for sequencing all of the protein-coding regions of genes in a genome.
Resources

Newly diagnosed? Start here

A step-by-step guide for families navigating a new FOXP1 diagnosis.