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by Shannon
Munro Cohen, RNC, BSN; Teresa Whitt, Ph.D.
For more
information about this disorder, visit the Benign Congenital Hypotonia
website at
http://www.lightlink.com/vulcan/benign/index.htm.
Abstract
Benign congenital hypotonia (BCH) is a nonprogressive neuromuscular
disorder that is present at birth. Children with BCH exhibit decreased
muscle tone with varying degrees of severity. Hypotonia affects many areas
of a child’s life leading to developmental delays that include cognitive
development.
Early collaborative intervention for the child with hypotonia is
imperative. Supportive treatment aids in meeting developmental milestones
as educators are involved in the essential work of encouraging cognitive
development. Through the development of Individualized Family Service
Plans, educators improve the chance for success. Early intervention
programs are the key to optimal outcomes for children with hypotonia.
The following is a very brief overview of the topic presented by
Shannon Munro Cohen at "Overcoming Great Barriers", the 6th annual
International Association of Special Education Conference in Sydney,
Australia July 18-22, 1999.
Early recognition and intervention is the key to
recovery for Benign Congenital Hypotonia
Shannon Munro Cohen, RNC, BSN; Teresa Whitt, Ph.D.
Hypotonia, an ongoing problem for many children, is defined as decreased
muscle tone or floppiness with varying degrees of progression. It occurs
in multiple neuromuscular, metabolic and genetic disorders. Many areas of
a child’s life are affected by hypotonia leading to developmental delays
that include cognitive development. Educators working in collaboration
with parents and health care professionals improve the chances of success
for children with hypotonia. Early intervention programs and the use of
Individual Family Service plans (IFSP) are the key to optimal outcomes for
children identified with hypotonia.
The severity and progression of hypotonia varies with each child and their
diagnosis. For example, children with Down syndrome and hypotonic cerebral
palsy have low tone that remains stable or nonprogressive. Neuromuscular
disorders such as muscular dystrophy are progressive in nature; their
hypotonia worsening with time. Lastly, infants born prematurely experience
hypotonia that improves with maturity of the central nervous system.
Benign Congenital Hypotonia
Benign congenital hypotonia (BCH) is a diagnosis of exclusion given to
many children after all tests have been exhausted. In some cases, families
are never given a diagnosis for their child. BCH is a nonprogressive
neuromuscular disorder that does not worsen but tends to improve with time
and intervention. The cause of BCH is unknown and there is no cure.
Researchers have found a high familial incidence that may indicate BCH is
of autosomal dominant, genetic origin (Cohen, 1998). There is no genetic
testing available for BCH at this time.
Signs and symptoms
Children with BCH are quite hypotonic as infants with very flexible
joints; this presents many problems for the child. It is difficult for the
child to maintain head control or a sitting position. Parents handle their
infants with hypotonia gingerly as they develop head control quite late.
They feel fragile and limp like rag dolls and are unable to bear weight on
their legs. The child with BCH may slide out or fall over in a high chair.
Positioning of the infant for feeding is a particular challenge for
parents as the child lacks head and chest control and exhibits low tone in
the face and mouth. Sucking, chewing and swallowing are difficult for
these infants and toddlers. Drooling food and saliva from the mouth is
common and may persist in the school age child.
Abnormal postures assumed by these children cause many permanent skeletal
deformities such as dislocated hips, clubfeet and contractures of the
ankles, knees, elbows and wrists (Cohen, 1998). The infant may prefer to
sleep prone in a frog like position increasing his chances of hip and
chest deformities. Toddlers with hypotonia have difficulty maintaining
balance and often sit on their forelegs with their feet behind them. This
abnormal sitting posture leads to hip and knee problems as well.
Torticollis, a neck deformity, develops in some children who hold their
head to one side. Pectus excavatum, a depressed breast bone, may result
from adapted trunk control patterns as well. In the older child,
gymnastics is a particular hazard as they possess joint hypermobility
without pain. Adults with BCH may continue to experience muscle and joint
problems. Recurrent shoulder dislocation, back injury and scoliosis are
common (Boehme, 1990; Cohen, 1998).
Developmental delay and diagnosis
For the child with BCH, “every movement is a fight against gravity”
(Brown, 1998). While other children are reaching out for toys and
exploring their environment, the hypotonic child is struggling to maintain
his position. As a result of this struggle, development is delayed for the
child with BCH. In the United States, approximately 750,000 infants are
born each year at risk for developmental delay (Haber, 1991). Early
intervention programs are available for children at risk. However, parents
often do not seek medical evaluation until early developmental milestones
such as sitting, crawling, walking, independent feeding and talking are
missed. Parents carry the child with BCH like a young infant and lay the
child flat for dressing. As a result, the hypotonic child becomes a
passive onlooker. The child with BCH also talks late due to facial muscle
weakness. Nonverbal communication is frequently limited which is
interpreted as low cognitive ability.
Diagnosis is a lengthy, grueling process for families. When hypotonia is
not progressive and no causes are found, the decision is often left to
parents at what point they wish to stop looking for answers. The lack of a
definitive diagnosis is a source of frustration for parents. Parents must
also deal with their grief over the loss of a “perfect child.”
Cognitive development
Additional disabilities may be found in children with BCH. Due to a
limited ability to explore one’s surroundings, cognitive development may
be delayed. Children identified as having BCH may fill the void with self
stimulating activities such as banging motions (Cohen, 1998).
Family coping and intervention
Parents of a child with BCH cope with many stresses. Their lives
change immediately with the birth of the child. The child does not develop
at the same rate as his peers. Parents may not recognize or may deny that
there is a problem with their child. Denial is common among extended
family members which eliminates a source of support to parents. Parents
need education and support as they readjust expectations and accept their
child’s challenges. Families face many decisions regarding diagnosis and
treatment of their child. The family may face financial hardship and
social isolation as well (Trachtenberg & Batshaw, 1997).
Concern regarding a child’s development is the basis of early intervention
services. However, early intervention has a broader focus. Successful
programs emphasize a family centered, developmental approach providing
education and support (Bailey, 1991a). Primary care providers are the
first step in the early intervention process. Thorough assessments of at
risk children are essential (Allen, 1993). Referrals to developmental
specialists are initiated by the primary care physician. Children with
hypotonia and developmental delay are then referred to individualized
programs including early education, speech, occupational and physical
therapy.
Early intervention is an umbrella term covering many different services
funded by a variety of public and private sources. Available services are
determined by each locality. Public Law 99-457, 1986 that was reauthorized
in 1991 as PL 102-119 led to expanded services for young children with
disabilities. Part C of the Individuals with Disabilities Act (IDEA), a
state formula grant program, has assisted in developing comprehensive
services and mandates a family directed approach.
Individualized Family Service Plan
In order to best meet the needs of each child and their family, an
Individualized Family Service Plan (IFSP) is developed in collaboration
with the family and the education team. The plan is ongoing and meets the
changing needs of each child. The steps in this process are outlined by
Handley and Spencer (1986): 1) problem definition and information
gathering, 2) investigating alternatives and the selection of
alternatives, 3) implementation, and 4) monitoring and evaluation of the
process.
The IFSP is developed with a family centered approach with respect for the
family’s knowledge about their child and their desired outcome (McGonigel,
Kaufman & Johnson, 1991). Careful consideration of cultural differences
and family values are a part of this process (Lynch & Hanson, 1992).
Through collaboration, the team discusses priorities and alternatives and
chooses the services that will best meet the needs of each child and
family. Family involvement in IFSP planning and final decision making has
become “best practice” in early intervention (Bailey, 1991a, 1991b; Bjorch-
Akesson & Granlund, 1997; Kramer,1991; Leviton, 1991).
Early collaborative intervention for the hypotonic child is essential.
Supportive treatment helps children meet their developmental milestones.
The need for physical, occupational and speech therapy is evaluated on an
individual basis. Physical and occupational therapists work to overcome
the gross and fine motor delays caused by low tone. Speech therapists work
on speech delays and feeding difficulties.
Educators are involved in the essential work of encouraging cognitive
development. Collaboration between family members, educators and health
care professionals is essential for children with hypotonia. Educators
improve the chances of success for these children through the development
of carefully planned Individualized Family Service Plans. Early
intervention programs are the key to optimal outcomes for these children.
References
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the high risk infant. Pediatric Clinics of North America 40(3), 479-488.
Bailey, D.B. (1991a). Building positive relationships between
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B.H. (Eds.). Guidelines and recommended practices for the individualized
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Bailey, D.B. (1991b). Issues and perspectives on family assessment.
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Boehme, R. (1990). The hypotonic child. Arizona: Therapy skill builders.
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Brown, N. (1998, December). A testing time for low-tone kids [On- line].
Available: http://www.lightlink.com/vulcan/benign/.
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