No parent wants to imagine that their baby would be born any other way than healthy. Yet a percentage of infants born each year have some type of anomaly. 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 (+) birth defects detected in Australia lead to a disability, the mere presence of a defect leads to an increased chance of a disability and concern for parents. A disability, also known as an impairment, is defined as ‘substantially limiting one or more major life activities’.
Potential disabilities are not always detected in newborn babies by the medical staff or family. It is often later when the infant has missed a developmental milestone such as rolling over, crawling, or babbling that something is suspected of being wrong. On the other hand, some diagnoses such as genetic syndromes are obvious as soon as the staff closely examines the infant after delivery.
Listed below are some of the most common disabilities seen in infants and how their symptoms can be recognised.
Plagiocephaly occurs when the head is misshapen (flattened or lop-sided) due to pressure put on the head from the baby staying in one position for too long. Whilst plagiocephaly is not present at birth, it is usually obvious by 2 months of age and ranges from mild to severe. Because babies' heads are soft and malleable, their heads can easily take on a shape other than how it was at birth.
Numbers on plagiocephaly are reported to be as high as 22% of infants at 7 weeks of age but decrease to 3% by two years of age. This means that most cases are resolved, especially once the baby learns to roll and crawl, and is spending less time in one position.
Yet, some babies require physical or occupational therapy as well as 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.
Visual impairments occur in 12 of every 1000 births; severe visual impairments occur in .6 per 1000 births. More severe impairments often accompany other diagnoses such as genetic syndromes, prematurity, and neurological problems.
Symptoms vary due to the numerous types of visual problems that can occur. 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 colours. If any visual problem is suspected, a thorough evaluation by a paediatric optometrist or ophthalmologist is recommended.
Heart defects occur 9 of every 1000 births in Australia. 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 sound labored with their breathing. Various defects exist including a ‘hole’ in the heart or valve malfunctions. Heart defects are commonly found in babies who have a genetic syndrome (e.g. Down Syndrome), but can also occur independent of any other diagnoses. Thankfully, some heart defects can be picked up by the medical staff using an ultrasound machine to look at the baby during pregnancy.
Hearing impairments occur 1 in every 333 births. 90% of these infants are born to hearing parents in which causes can be due to illnesses during pregnancy or neurological impairments. 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 whereas sensorineural hearing losses are due to nerve impulses not being 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 it is 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.
Fetal Alcohol Spectrum Disorder (FASD) occurs in 2 of every 1000 births at least; often it goes undiagnosed and some experts think that the number may be even higher. FAS is completely preventable because it only occurs if the mother consumed larger amounts of alcohol during pregnancy. Symptoms include far set eyes, low muscle tone, delayed developmental milestones, and later on, learning disabilities. For more information on FASD Cerebral palsy (CP) occurs 1 in every 500 births.
Cerebral palsy occurs due to 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 go as late as 18 months before a diagnosis is made. Symptoms vary because there is more than one type of cerebral palsy which depends upon what part of the brain was damaged.
The most common type of cerebral palsy is ‘spastic’. The children with spasticity have tight muscles resulting in poor head control, difficulty grasping, and poor mobility with rolling, crawling, and walking. Spasticity can affect just the legs (Diplegia), only one side of the body- arms, face, and legs (Hemiplegia), or both legs and arms (Quadriplegia).
Another type of cerebral palsy is ‘ataxia’, which often doesn't get 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. The next type of cerebral palsy is ‘athetosis’, which 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 of the entire body. Another category have low muscle tone, also known as hypotonia, and this can effect 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 delays. Other accompanying problems include hearing and vision impairments as well as delayed or absence of speech. Babies born prematurely are more at risk for Cerebral Palsy due to the increased risk of brain bleeds.
Prematurity occurs approximately 1 in every 600 births in Australia. Premature birth occurs when the baby is born prior to 37 weeks gestation; 40 weeks gestation is the average length of a pregnancy. Early delivery may be induced because of poor health of the mother or baby, or it may occur naturally such as when the ‘water breaks’. Babies born premature 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. This is a lovely Australian website for more information regarding premature infants.
Cleft lip and palate occurs approximately 1 in every 700 births. It is typically obvious because the babies have a split in their upper lip and possibly the roof of their mouth (palate). There are some babies who have a cleft palate without having a cleft in their lip. Symptoms include problems with swallowing, latching on to the nipple of the bottle or breast, and speech development. This is often less obvious. Usually, surgeries are necessary to repair the cleft lip and palate.
Down Syndrome occurs 1 in every 800 births. For many years now babies have been screened with the nuchal translucency test in utero. A nuchal translucency ultrasound (commonly called a “nuchal scan” or “NT scan”) is an ultrasound performed between 11.5 and 13 weeks 6 days gestation. Some cases are not detected before delivery, yet once the following symptoms are observed, the baby undergoes genetic testing: broad head, short stature, short neck, round face, low muscle tone, and flat nasal bridge with upward slanted eyes and epicanthal folds. Also, heart malformations and hearing impairments may be present. Children with Down Syndrome have an increased risk of having leukemia and early onset of Alzheimers by the age of 35 years. As the baby grows, often cognitive, language, and motor delays are obvious.
Brachial Plexus Injury occurs 1 in every 1000 births. Symptoms include paralysis or weakness of the shoulder, forearm, hand, and finger muscles. Also, 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 may occur due to complications during delivery. Sometimes being positioned in an awkward position in utero or with multiple babies can be the cause brachial plexus.
Spina Bifida occurs 1 in every 1200 births. Recent technology allows for some of the babies to be operated on before they are ever born which lessens the functional disabilities. Spina bifida is a neural tube defect that occurs during the first trimester of pregnancy in which 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 lacking in 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 on the brain, lower extremity paralysis, poor leg sensation, and muscle weakness of the legs as well as learning disabilities.
Cystic Fibrosis (CF) is a disorder that impacts the excretory 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 such as with asthma-like symptoms, excessive sweating, and foul smelling bowel movements. Prevalence of Cystic Fibrosis is 1 in every 2500 births.
Sensory Processing Disorders. 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 the various systems of vision, hearing, touch, smell, taste, and movement (proprioception and vestibular input). Statistics are difficult to gather on poor sensory processing due to it sometimes being a temporary problem, such as with prematurity or other medical complications, and other times it is more of a permanent problem such as with autism.
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 lay 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). Autism Spectrum Disorder. It is now estimated that 1 in every 100 children have a diagnosis of Autism Spectrum Disorder-, and although it is not diagnosed in young infants, clinicians are starting to detect "red flags" in infants and giving a diagnosis as early as 12 months of age.
Autism Spectrum Disorder (ASD) is a developmental condition which affects individuals in two main areas:
1. Individuals have impaired communication and social interaction
2. Individuals have restricted, repetitive patterns of behaviour, interests or activities
ASD affects the way that individuals are able to interact with others and they often find the world to be a confusing place. Difficulty communicating can result in ‘melt downs’ – this differs from a tantrum as the individual does not choose to have a melt down. Individuals with ASD often have sensory sensitivities – they may be under- or over-sensitive to any of the five senses.
If you are concerned that your child may have a disability, please discuss this with your child's general practitioner.
