Holoprosencephaly (arhinencephaly; Figure 7.

35) occurs
when the prosencephalon fails to cleave down the midline
such that the telencephalon contains a single ventricle. It is
characterized by the absence of olfactory bulbs and tracts
(arhinencephaly) and is often seen in trisomy 13 (Patau
syndrome), trisomy 18 (Edward syndrome), short-arm
deletion of chromosome 18, and Meckel syndrome. Because
the fetal face develops at the same time as the brain, facial
anomalies (e.g., cyclopia, cleft lip, cleft palate) are commonly
seen with holoprosencephaly. Holoprosencephaly is the most
severe manifestation of fetal alcohol syndrome resulting
from alcohol abuse during pregnancy (especially in the first
4 weeks of pregnancy). The sonogram (Figure 7.35) shows a
single, horseshoe-shaped ventricle (V) and fused thalami
(T) typical of holoprosencephaly. There are three types of
holoprosencephaly:
Suggest that the defects associated with holoprosencephaly occur at the human equivalent of
approximately two to three weeks post-conception [1], indicating that holoprosencephaly is a disorder
of gastrulation.

The forebrain - prosencephalon - gives rise to the telencephalon and the

diencephalon. Failure of complete development of the telencephalon
precludes formation of two complete cerebral hemispheres. Instead, there
is a single mass of brain with a single central cavity for a ventricle. When
no hemispheric differentiation is present, the defect is called alobar
holoprosencephaly. When there is at least partial development of
hemispheres, the condition is called semilobar holoprosencephaly.

The optic stalks and cups are diencephalic structures. Failure of complete
development may lead to cyclopia.

The thalamus is also a diencephalic structure. Fusion is typical for this

condition.

Definition. Occurs when the prosencephalon fails to cleave down the midline which results in
malformation of the brain and face.

Causes:.
5th week of development
Augmentative Communication (Alternative Communication (AAC))
A method of communication used by children and adults with severe speech and language
disabilities. The methods of AAC will vary and be personalized to meet the needs of the
individual. Tools used may range from a basic picture communication board to a dedicated, high-
level electronic speech generating device (SGD).
Developmental Therapy
Guided play for children creating learning environments and activities to promote skills in all
areas of a child’s development. Much of the therapy is child-directed, meaning the therapist
follows the child’s lead. Therapists also show parents techniques for behavior management and
modeling within the context of everyday experiences and environment.
Hippotherapy
A specialized form of physical therapy which uses a horse as a therapy tool to address movement
disorders. A hippotherapy treatment is conducted by a licensed and specially trained health
care provider, most often a physical or occupational therapist or speech language pathologist. For
the child with HPE and low muscle tone or poor motor control, the horse offers a movement
experience that cannot be replicated in any clinic. The symmetric movement of the horse mimics
human gait and provides neuromuscular information to the child’s nervous system.
Pediatric Feeding Therapy
A combination of treatments that help children who have difficulties related to eating
or drinking. There are many different types of feeding problems, and the therapy is
individualized for each child.
Pediatric Occupational Therapy
Focuses on a child’s sensory and motor skills, emotional development, self-care abilities and
play skills to help improve successful functioning in the home, at school and in the community.
An Occupational Therapist (OT) is skilled at assessing a child’s level of function in areas such as
fine and gross motor, visual perception, visual motor, self-cares/activities of daily living, feeding
and sensory processing. In addition, he/she is trained in assessing the need for adaptive
equipment and technology, and making the proper recommendations.
Pediatric Physical Therapy
A health care specialty that evaluates, diagnoses, and treats disorders of the musculo-skeletal
system in children. Physical therapy (PT) is provided by physical therapists, who are licensed
health care professionals with a master’s or doctorate degree in physical therapy. A physical
therapist assesses areas concerning joint motion, muscle control, strength, coordination, balance,
movement patterns, sensory issues, mobility, gait and equipment.
Pediatric Speech and Language Therapy
Provides assessment and treatment of a child’s communication skills including speech,
language, play and social interaction development. The focus of treatment may be on improving
oral-motor skills, developing alternative means of communication, and improving language and
cognitive skills.
Vision Therapy
An individualized treatment program designed to correct visual-motor and/or perceptual-
cognitive deficiencies. Vision therapy trains the entire visual system, which includes eyes, brain
and body. However, it is important to understand that vision therapy is a form of neurological
training or rehabilitation (it can be compared to some forms of occupational therapy or physical
therapy). The goal of vision therapy is to train the patient’s brain to use the eyes to receive
information effectively, comprehend it quickly and react appropriately.