I work part-time as a pediatric occupational therapist for infants and toddlers with developmental delays and disabilities.
How Common Are Birth Defects?
No parent wants to imagine that their baby would be anything but healthy. Yet one in every 33 infants born in the USA has some type of birth defect. A birth defect can be defined as a problem in the structures or function of the body, such as when the eyes are two different sizes or when the heart is not pumping blood efficiently.
Although not all of the 4000-plus birth defects will lead to a permanent disability, the presence of a birth defect does increase the odds. A disability, also known as an impairment, is defined by the Americans with Disabilities Act (ADA) as "substantially limiting one or more major life activities."
Medical staff and families do not always detect birth defects immediately. It is often later, when the infant has missed a developmental milestone, such as rolling over, crawling, or babbling, that a disability is identified. On the other hand, some diagnoses, like genetic syndromes, are obvious as soon as the medical staff examines the infant after delivery.
The Most Common Disabilities
These are the disabilities most frequently seen in infants. Their prevalence may differ in various regions of a country or the world, as well as within races or socioeconomic groups.
- Visual Impairments
- Heart Defects
- Hearing Impairments
- Fetal Alcohol Syndrome
- Cerebral Palsy
- Cleft Lip and Palate
- Down Syndrome
- Brachial Plexus Injury
- Spina Bifida
- Cystic Fibrosis
- Sensory Processing Problems
Plagiocephaly occurs when pressure is exerted on a baby's head from staying in one position for too long (during sleeping, for example), causing the head to become flattened or lopsided. It is not present at birth, but is usually obvious by two months of age. Because babies' heads are soft and malleable, their heads can easily take on a different shape. Up to 22% of infants at seven weeks of age have plagiocephaly, but that number decreases to 3% by two years of age. This means that most cases are resolved once the baby learns to roll and crawl, since they spend less time in one position. However, some babies require physical or occupational therapy, along with a helmet, to reshape the head. Although many babies have plagiocephaly due to sleeping on their backs or sides for long periods of time, others have it due to neurological, medical, or muscular problems such as torticollis, cerebral palsy, visual impairments, prematurity, and even infant reflux (GERD). More on this topic can be found on the Seattle Children's Hospital website.
Visual impairments occur in 12 out of every 1000 births. More severe impairments are rarer, occurring in .6 per 1000 births. The latter often accompany other diagnoses such as genetic syndromes, prematurity, and neurological problems. Symptoms vary, since there are many kinds of visual problems. Frequent symptoms include not looking at faces; one or both eyes turning in or otherwise not aligned; not turning head or eyes to follow a moving person or toy; and not seeming interested in toys or moving toward them. Mild visual impairments may go unnoticed because the child can see things—just not clearly. These babies may notice contrasting bright colors more easily than muted colors. If any visual problem is suspected, a thorough evaluation by a pediatric optometrist or ophthalmologist is recommended. Visit My Child Without Limits for more information.
Heart defects occur in nine out of every 1000 births in the USA. Typically within the first few months of life, a defect may be considered if the baby has difficulties with breathing, feeding, or is losing weight. Some babies may turn blue or have labored breathing. Various defects exist, including a "hole" in the heart and various valve malfunctions. Heart defects are commonly found in babies who have a genetic syndrome (e.g. Down Syndrome, DiGeorge Syndrome), but can also occur independently of any other diagnoses. Luckily, some heart defects can be picked up by the medical staff using an ultrasound machine during pregnancy. More information can be obtained at AmericanHeart.org.
Hearing impairments occur in one out of every 333 births. 90% of these infants are born to hearing parents, in which case the impairment can be due to illnesses during pregnancy or neurological problems. At other times, genetic factors are to blame. There are two types of hearing impairments: conductive and sensorineural. Conductive hearing losses are temporary—such as during an ear infection with excessive fluid in the ear. Sensorineural hearing losses happen when nerve impulses are not sent to the brain and may require amplification devices such as hearing aids or cochlear implants. Sometimes the hearing deficits are picked up at the newborn screening, whereas other times they are not noticed until the child is not turning to voices, startling at loud noises, or babbling. Mild hearing impairments may result in poor speech production in a toddler, yet the child still turns to voices and loud noises. More information can be found at BabyHearing.org.
Fetal Alcohol Syndrome
Fetal Alcohol Syndrome (FAS) occurs in at least two out of every 1000 births. (Some experts think that the number may be even higher.) FAS is completely preventable: It only occurs if the mother consumed alcohol during pregnancy. Symptoms include far-set eyes, low muscle tone, delayed developmental milestones, and learning disabilities. Get more information on FAS at NOFAS.org.
Cerebral palsy (CP) occurs in one out of every 500 births. Cerebral palsy occurs because of damage of the brain's structures prior to, during, or soon after birth. More severe cases can sometimes be noticed in a newborn, but often symptoms are not obvious until a few months of age, when the child is not rolling over or using his hands in the way he should. Some children have milder cases of CP and may be as old as 18 months before a diagnosis is made. Symptoms vary because there is more than one type of cerebral palsy, depending on what part of the brain was damaged:
- The most common type of cerebral palsy is spastic. The children with spasticity have tight muscles, which results in poor head control, difficulty grasping, and poor mobility. Spasticity can affect just the legs (diplegia), only one side of the body—arms, face, and legs (Hemiplegia)—or both legs and arms (quadriplegia).
- Ataxia, another type, is often not detected until the child should be pulling up to a standing position. Symptoms include tremor-like motions, unsteady balance, poor hand manipulation skills, and delayed speech.
- Athetosis means the child's muscle tone fluctuates from floppy to tight. Symptoms include poor head control, poor feeding skills, locking joints, and extreme delays with movement skills.
- Hypotonia is characterized by low muscle tone. This can affect just one side of the body (hemiparesis) or the whole body (global).
Children with CP may have normal or above normal intelligence, but many have learning disabilities or mental retardation. Other accompanying problems include hearing and vision impairments, as well as delayed or absent speech. Babies born prematurely are more at risk for CP, since they are more prone to brain bleeds. If you suspect your child may have CP, discuss this with your child's physician and consider seeing a neurologist to confirm or rule out the diagnosis. More information can be obtained at UCP.org.
Prematurity occurs in approximately one out of every 600 births. A baby is premature if it is born prior to 37 weeks gestation. (40 weeks gestation is the average length of a pregnancy.) Early delivery may be induced by the physician because of poor health of the mother or baby, or it may occur naturally. Babies born prematurely have an increased risk of long-term disabilities, such as visual, hearing, learning, heart, and neurological impairments. They also are at increased risk of short-term complications, such as feeding problems and infections. Babies born prematurely have an increased risk of death due to medical complications and SIDS (Sudden Infant Death Syndrome). Typically, babies delivered prior to 23 weeks of gestation do not survive. More information can be found at prematurity.org.
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Cleft Lip and Palate
Cleft lip and palate occurs approximately in one out of every 700 births. It is typically obvious to the medical staff because the babies have a split in their upper lip and possibly the roof of their mouth (palate). Some babies have a cleft palate without having a cleft in their lip. In either case, the baby may have problems with swallowing, latching on to the nipple of the bottle or breast, and speech development. Usually, multiple surgeries are necessary to repair the cleft lip and palate. More detailed information can be found at ACPA Family Services.
Down Syndrome occurs in one out of every 800 births. Because babies are screened in utero, the statistics may not reveal how many fetuses have Down Syndrome, since some women choose to abort the pregnancy. Some cases are not detected before delivery. In that case, a baby who displays certain characteristics will undergo genetic testing. These include a broad head, short stature, short neck, round face, low muscle tone, and flat nasal bridge with upward slanted eyes and epicanthal folds. Heart malformations and hearing impairments may be present. Children with Down Syndrome have an increased risk of having leukemia and early-onset Alzheimers by the age of 35 years. As the baby grows, often cognitive, language, and motor delays are obvious. More information can be found at NADS.org.
Brachial Plexus Injury
Brachial Plexus Injury occurs in one out of every 1000 births. Symptoms include paralysis or weakness of the shoulder, forearm, hand, and finger muscles. By a few months of age, if the nerves are still damaged, the collar bone on the injured side will grow forward, making the two shoulders look lop-sided. Injury to the plexus (group) of nerves in the armpit region can be due to complications during delivery, such as when a larger baby gets stuck in the vaginal canal. Sometimes being positioned in an awkward position in utero—as in a multiple pregnancy—can be the cause of the injury. HealthyChildren.org offers more information on this condition.
Spina Bifida occurs in one out of every 1200 births. Recent technology allows for some of the babies to be operated on before they are ever born. Spina bifida is a neural tube defect that occurs during the first trimester of pregnancy. The spine is exposed, not closed and protected by the meninges (a cover that lies over the spine and brain). Women who are obese or who don't get enough folic acid are at an increased risk of having a baby with spina bifida. This is a diagnosis that is either detected in utero or at the time of delivery. Symptoms include excessive fluid in the brain, lower extremity paralysis, poor leg sensation, and muscle weakness of the legs as well as learning disabilities. More information can be found on the Spina Bifida Association website.
Cystic Fibrosis (CF) is a disorder that impacts the execratory system such as mucus membranes and sweat. These babies often have enlarged hearts, are more gassy, and have an increased chance of clubbed fingers and toes. Screenings for CF are offered to women during their pregnancy, or can occur after the baby is born if CF is suspected. A baby with CF may have asthma-like symptoms, excessive sweating, and foul-smelling bowel movements. CF occurs in one out of every 2500 births. Visit CFF.org for more information.
Sensory Processing Problems
Anytime the brain or development is impaired, sensory processing problems are likely to occur. Sensory processing is how the brain takes in and uses the sensory input it receives from vision, hearing, touch, smell, taste, and movement. Statistics are difficult to gather on poor sensory processing, which can be either temporary or permanent. Some symptoms of poor sensory processing include: not liking to be held except a certain way, over-reacting to loud noises, feeding problems, and refusing to lie on the tummy. Once these children are older, they may be diagnosed with Sensory Processing Disorder (SPD), also known as Sensory Integration Dysfunction (SID, SDI). More detailed symptoms and tips to help with poor sensory processing in babies can be found at Sense-Ablebaby.com.
It is now estimated that one out of every 100 children has a diagnosis of autism, and although it is not diagnosed in infants, medical staff are starting to detect "red flags" in infants and giving a diagnosis as early as 18 months of age. For symptoms of autism, visit FirstSigns.org.
What to Do
If you are concerned that your child may have a disability, discuss it with his or her physician. Also, be aware that children who are diagnosed with one of these issues may qualify for therapy and developmental services through early intervention programs, which are located in every state and territory of the USA. The Center for Parent Information and Resources offers tips for finding a program in your area.
This content is for informational purposes only and does not substitute for formal and individualized diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed medical professional. Do not stop or alter your current course of treatment. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.
Pinaki Goswami on April 18, 2019:
Very informative article. I am interested about cerebral palsy. Thanks and regards.
Chichi on October 18, 2015:
As regards your Down syndrome features. Has there been a wrong diagnosis?
Ellen on September 16, 2011:
Add DiGeorge as its own subheading. I had never heard of it until my own son was diagnosed, but it is very, very, very common.
DePuy Pinnacle Recall on April 06, 2011:
With regards to FAS (Fetal Alcohol Syndrome) as a disability, recent studies still hold claim that any consumption of alcohol is unsafe for a fetus in utero.
Satire Thoughts from I want to be where you are! on November 11, 2010:
A good read.
prettydarkhorse from US on October 27, 2009:
very informative specially to a parent like me, and the article is well done! good day to you.
OTmommy (author) from Southern USA on October 10, 2009:
Thanks guys! Breaking this article down is a great idea- thanks Dolores for the suggestion! I wrote this article in response to a request and I hope it helps someone out there worrying if their baby might have symptoms of some of these disabilities.
Dolores Monet from East Coast, United States on October 10, 2009:
Wow - tons of information - great hub! You could break each topic down and write a complete hub on every one of them too.
Tony McGregor from South Africa on October 09, 2009:
Very interesting and informative. Thanks for sharing.
Love and peace
sandwichmom from Arkansas on October 06, 2009:
My cousins son was born with spina bifida- I only began to learn about this and other infant disabilities after this experience-
Thanks for this information