Other Pediatric Conditions

angelman

Angelman Syndrome is a genetic disorder in which a gene on chromosome 15 is missing or unexpressed. Children with Angelman Syndrome typically have developmental delays that are frequently evident between 6-12 months of age.Diagnosis can be established through genetic and DNA testing as early as the first year of life. In affected children, language comprehension and non-verbal skills are usually more developed than spoken language and the affected child may have few if any words. Children with Angelman Syndrome have difficulties with movement and balance. Their behavior may combine frequent laughter and smiling, an easily excitable personality, hand flapping movements, hyperactive behavior, and a short attention span. Associated physical features and concerns, such as seizures, movement problems, hypopigmentation, sleep and feeding problems, are present in about 20-80% of children who have this disorder. Many educational and behavioral interventions have been shown to be effective in addition to physical and occupational therapies, speech and language interventions, behavior modification, and parent training.

Signs/Symptoms
Consistent (100%)
  • Developmental delay, functionally severe
  • Speech impairment, no or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
  • Movement or balance disorder, usually ataxiaof gait and/or tremulous movement of limbs
  • Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span
Frequent (more than 80%)
  • Delayed, disproportionate growth in head circumference, usually resulting in microcephaly(absolute or relative) by age 2
  • Seizures, onset usually < 3 years of age
  • Abnormal EEG, characteristic pattern with large amplitude slow-spike waves
Associated (20–80%)
  • Hypopigmentedskin and eyes
  • Tongue thrusting; suck/swallowing disorders
  • Hyperactive tendon reflexes
  • Feeding problems during infancy
  • Uplifted, flexed arms during walking
  • Prominent mandible
  • Increased sensitivity to heat
  • Wide mouth, wide-spaced teeth
  • Sleep disturbance
  • Frequent drooling, protruding tongue
  • Attraction to/fascination with water
  • Excessive chewing/mouthing behaviors
  • Flat back of head
  • Smooth palms

                                      learning-disabilities-children-800x800

Learning disabilities are a group of neurological disorders which become evident in childh ood and which are characterized by difficulty learning, sorting, and storing information. Usually affected individuals have with average or above average intelligence.

Children with learning disabilities may have one or more difficulties with skills such as listening, speaking, reading, writing, reasoning, or mathematical abilities that interfere with academic performance, achievement and, in some cases, activities of daily living.

Learning disabilities may overlap with other disorders or environmental influences, but are not the direct result of those conditions or influences. Often these disabilities are not identified until a child reaches school age. Performances on standardized tests are usually found to be below that expected for age, schooling, and level of intelligence. Standardized cognitive measures and diagnostic tools in addition to observations from education professionals help to identify areas where these children are experiencing problems.

Some children find learning in a regular classroom difficult and LD classes may be recommended to help them receive more specific and intensive teaching. They may require information to be presented in multiple formats and broken down in manageable chunks before they can completely understand it. Learning disabilities are life long, but with proper intervention, training, and strategies, individuals can lead successful, fully functioning lives.

Types Of Learning disabilities

  1. Reading disorder:

    The most common learning disability of all students with specific learning disabilities, 70%-80% have deficits in reading. The term “Developmental Dyslexia” is often used as a synonym for reading disability; however, many researchers assert that there are different types of reading disabilities, of which dyslexia is one. A reading disability can affect any part of the reading process, including difficulty with accurate or fluent word recognition, or both, word decoding, reading rate, prosody (oral reading with expression), and reading comprehension. Before the term “dyslexia” came to prominence, this learning disability used to be known as “word blindness.”

    Common indicators of reading disability include difficulty with phonemic awareness—the ability to break up words into their component sounds, and difficulty with matching letter combinations to specific sounds (sound-symbol correspondence

  2. Disorder of Written Expression:

    Speech and language disorders can also be called Dysphasia/Aphasia

    This difficulty must also cause significant impairment to academic achievement and tasks that require composition of written text (Criterion B), and if a sensory deficit is present, the difficulties with writing skills must exceed those typically associated with the sensory deficit, (Criterion C).[9]

    Individuals with a diagnosis of a Disorder of Written Expression typically have a combination of difficulties in their abilities with written expression as evidenced by grammatical and punctuation errors within sentences, poor paragraph organization, multiple spelling errors, and excessively poor handwriting. Disorders in spelling or handwriting without other difficulties of written expression do not generally qualify for this diagnosis. If poor handwriting is due to impairment in motor coordination, a diagnosis of Developmental coordination disorder should be considered.

  3. Math disability:

    Sometimes called dyscalculia, a math disability involves such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. Dyscalculics are often referred to as having poor “number sense”

                 mental retardation1 mental retardation

Intellectual Disability (ID) or General Learning Disability is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors.  A person with mental retardation may have difficulties with communication, conceptual skills, social skills, self-care, home living, social skills, community use, self-direction, health and safety, functional academics, leisure, and work.

Children with intellectual disability may learn to sit up, to crawl, or to walk later than other children, or they may learn to talk later. Both adults and children with intellectual disability may also exhibit some or all of the following characteristics:

  • Delays in oral language development
  • Deficits in memory skills
  • Difficulty learning social rules
  • Difficulty with problem solving skills
  • Delays in the development of adaptive behaviors such as self-help or self-care skills
  • Lack of social inhibitors

Children with intellectual disability learn more slowly than a typical child. Children may take longer to learn language, develop social skills, and take care of their personal needs, such as dressing or eating. Learning will take them longer, require more repetition, and skills may need to be adapted to their learning levels. Nevertheless, virtually every child is able to learn, develop and become a participating member of the community.

In early childhood, mild intellectual disability (IQ 50–69) may not be obvious, and may not be identified until children begin school. Even when poor academic performance is recognized, it may take expert assessment to distinguish mild intellectual disability from learning disability or emotional/behavioral disorders. People with mild intellectual disability are capable of learning reading and mathematics skills to approximately the level of a typical child aged nine to twelve. They can learn self-care and practical skills, such as cooking or using the local mass transit system. As individuals with intellectual disability reach adulthood, many learn to live independently and maintain gainful employment.

Moderate intellectual disability (IQ 35–49) is nearly always apparent within the first years of life. Speech delays are particularly common signs of moderate MR. People with moderate intellectual disability need considerable supports in school, at home, and in the community in order to participate fully. While their academic potential is limited, they can learn simple health and safety skills and to participate in simple activities.

Tourette

Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical (motor) tics and at least one vocal (phonic) tic. These tics characteristically wax and wane, can be suppressed temporarily, and are preceded by a premonitory urge. Tourette’s is defined as part of a spectrum of tic disorders, which includes provisional, transient and persistent (chronic) tics.

Tics are sudden, repetitive, nonrhythmic movements (motor tics) and utterances (phonic tics) that involve discrete muscle groups.[5] Motor tics are movement-based tics, while phonic tics are involuntary sounds produced by moving air through the nose, mouth, or throat.

People with Tourette Syndrome are often impulsive and have other symptoms of Attention Deficit Disorder. While the average age of onset of Tourette Syndrome is 6-7 years old, there are many cases where parents later realized that their child’s tics had actually started much younger. In almost all cases, Tourette Syndrome emerges before age 18, but there are exceptions.

seizure

Seizure disorders are neurological disorders that may cause physical convulsions, minor physical signs, thought disturbances, or a combination of symptoms that are the result of uncontrolled electrical activity in the brain. An individual with a seizure disorder, such as epilepsy, may experience one or more different types and levels of severity of seizure. The condition can develop at any time of life, especially in early childhood, during adolescence and old age. Treatments included seizure-preventing medicines, surgery, ketogenic diet (primarily in children), or electrical stimulation of the vagus nerve, a large nerve leading into the brain. Although seizure medications are not a cure, they control seizures in the majority of people with epilepsy. For some, seizure disorders will be a temporary problem, easily controlled with medication and outgrown after a few years. For others, it may be a lifelong challenge affecting many areas of life.

ataxia

Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum.

Ataxia describes the lack of muscle coordination when a voluntary movement is attempted. It may affect any motion that requires muscles to work together to perform a function, from walking to picking up an object to swallowing.

Cerebellar ataxia is caused by abnormalities and damage, either temporary or permanent, to the cerebellum. Sensory ataxia occurs when the dorsal columns of the spinal cord fail to function normally. They are responsible for carrying proprioception information from the body to the brain. Damage to parts of the brain that have to interpret the information may also cause sensory ataxia. Vestibular ataxia describes loss of balance because the vestibular canals fail to function properly.

The symptoms of ataxia will depend upon what part of the brain or body is affected. Common symptoms all involve lack of coordination:

  • Difficulty walking with an unsteady gait, which is often wide-based and staggering. This can lead to stumbling and falling.
  • Speech may be slurred and slow with an unusual rhythm to the words.
  • Swallowing may be difficult and the patient may choke, especially when drinking liquids.
  • Difficulty using the hands and fingers to button shirts, or pick up a fork or spoon to eat. Writing, keyboarding, sewing, and playing an instrument can be affected.
  • Nystagmus is the term used to describe rapid involuntary eye movements where the eyes jerk back and forth. This can cause blurred vision and difficulty reading or moving the eyes from one word to the next.
  • Fatigue is a common complaint, likely because the muscles of the body have to work harder to overcome the lack of coordination to perform their daily activities.

Apraxia (called “Dyspraxia” if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain.

There are several types of Apraxia including:

    • Ideomotor Apraxia: 

These patients have deficits in their ability to plan or complete motor actions that rely on semantic memory. They are able to explain how to perform an action, but unable to “imagine” or act out a movement such as “pretend to brush your teeth” or “pucker as though you bit into a sour lemon.” The ability to perform an action automatically when cued, however, remains intact. This is known as automatic-voluntary dissociation. For example, they may not be able to pick up a phone when asked to do so, but can perform the action without thinking when the phone ring.

    • Ideational/conceptual apraxia:

Patients have an inability to conceptualize a task and impaired ability to complete multistep actions. Consists of an inability to select and carry out an appropriate motor program. For example, the patient may complete actions in incorrect orders, such as buttering bread before putting it in the toaster, or putting on shoes before putting on socks. There is also a loss of ability to voluntarily perform a learned task when given the necessary objects or tools. For instance, if given a screwdriver, the patient may try to write with it as if it were a pen, or try to comb one’s hair with a toothbrush.

    • Buccofacial or Orofacial Apraxia: :

Non-verbal oral or buccofacial ideomotor apraxia resulting in difficulty carrying out movements of the face on demand. For example, an inability to lick one’s lips or whistle.

    • Constructional Apraxia:

The inability to draw or construct simple configurations, such as intersecting pentagons.

    • Gait Apraxia:

The loss of ability to have normal function of the lower limbs such as walking. This is not due to loss of motor or sensory functions.

    • Limb-kinetic Apraxia: :

Difficulty making precise movements with an arm or leg.

chairi malformation

Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brain stem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination.

Symptoms may change for some individuals depending on buildup of CNS and any resulting pressure on tissue and nerves.

  • Headachesaggravated by Valsalva maneuvers, such as yawning, laughing, crying, coughing, sneezing or straining, bending over, or getting up suddenly.
  • Tinnitus(ringing in the ears)
  • Lhermitte’s sign
  • Vertigo(dizziness)
  • Nausea
  • Nystagmus(irregular eye movements; typically, so-called “downbeat nystagmus”)
  • Facial pain
  • Muscle weakness
  • Impaired gag reflex
  • Difficulty Swallowing
  • Restless leg syndrome
  • Sleep apnea
  • Sleep disorders
  • Dysphagia(difficulty swallowing)
  • Impaired coordination
  • Severe cases may develop all the symptoms and signs of a bulbar palsy
  • Paralysis due to pressure at the cervico-medullary junction may progress in a so-called “clockwise” fashion, affecting the right arm, then the right leg, then the left leg, and finally the left arm; or the opposite way around.
  • Increased intracranial pressure
  • Pupillary dilation
  • Dysautonomia: tachycardia(rapid heart), syncope (fainting), polydipsia (extreme thirst), chronic fatigue
Classification:
  • Type I– which may not cause symptoms and is often found by accident during an examination for another condition.
  • Type II– (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening.
  • Type III– is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia (a fluid-filled cyst in the spinal cord), and spinal curvature.

 

microcephaly

Microcephaly is a medical condition in which the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing.  Microcephaly can be present at birth or it may develop in the first few years of life.  It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development.

Affected newborns generally have striking neurological defects and seizures. Severely impaired intellectual development is common, but disturbances in motor functions may not appear until later in life.

Infants with microcephaly are born with either a normal or reduced head size. Subsequently the head fails to grow while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. As the child grows older, the smallness of the skull becomes more obvious, although the entire body also is often underweight and dwarfed. Development of motor functions and speech may be delayed. Hyperactivity and intellectual disability are common occurrences, although the degree of each varies. Convulsions may also occur. Motor ability varies, ranging from clumsiness in some to spastic quadriplegia in others.

Depending on the severity of the accompanying syndrome, children with microcephaly may have mental retardation, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures, difficulties with coordination and balance, and other brain or neurological abnormalities.  Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.

meningitis-baby

Meningitis is an acute inflammation of the protective membranes covering the brain and spinal cord, known collectively as the meninges. The inflammation may be caused by infection with viruses, bacteria, or othermicroorganisms, and less commonly by certain drugs

The most common symptoms of meningitis are headache and neck stiffness associated with fever, confusion or altered consciousness, vomiting, and an inability to tolerate light (photophobia) or loud noises (phonophobia). Children often exhibit only nonspecific symptoms, such as irritability and drowsiness or fatigue, lack of appetite, and fever.

encephalitis

Encephalitis is an acute inflammation of the brain. Encephalitis with meningitis is known as meningoencephalitis.

Symptoms of encephalitis include sudden fever, headache, vomiting, heightened sensitivity to light, stiff neck and back, confusion and impaired judgment, drowsiness, weak muscles, a clumsy and unsteady gait, and irritability. Symptoms that might require emergency treatment include loss of consciousness, seizures, muscle weakness, or sudden severe dementia.

The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle.

Muscular Dystrophy(MD) is a group of muscle diseases that weaken themusculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscleproteins, and the death of muscle cells and tissue

Signs and Symptoms
  • Progressive muscular wasting
  • Poor balance
  • Drooping eyelids
  • Atrophy
  • Scoliosis(curvature of the spine and the back)
  • Inability to walk
  • Frequent falls
  • Waddling gait
  • Calf deformation
  • Limited range of movement
  • Respiratory difficulty
  • Joint contractures
  • Cardiomyopathy
  • Arrhythmias
  • Muscle spasms
  • Gowers’ sign

 

motor neuron dis

Motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing.  Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles.  When there are disruptions in these signals, the result can be gradual muscle weakening, wasting away, and uncontrollable twitching (called fasciculations).  Eventually, the ability to control voluntary movement can be lost.  MNDs may be inherited or acquired, and they occur in all age groups.

MNDs occur more commonly in men than in women, and symptoms may appear after age 40.  In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk. The causes of sporadic (no inherited) MNDs are not known, but environmental, toxic, viral, or genetic factors may be implicated.  Common MNDs include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, and progressive muscular atrophy. Other MNDs include the many inherited forms of spinal muscular atrophy and post-polio syndrome, a condition that can strike polio survivors decades after their recovery from poliomyelitis.

Hydrocephalus is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increased intracranial inside the skull and progressive enlargement of the head, convulsion, tunnel vision, and mental disability. Hydrocephalus can also cause death. It is more common in infants, although it can occur in older adults.

Congenital hydrocephalus is present at birth and may be caused by genetic abnormalities or developmental disorders such as spina bifida and encephalocele.  Acquired hydrocephalus develops at the time of birth or at some point afterward and can affect individuals of all ages.

  • In infancy, the most obvious indication of hydrocephalus is often the rapid increase in head circumference or an unusually large head size. Eyes that appear to gaze downward; Irritability; Seizures; Separated sutures; Sleepiness; Vomiting.
Symptoms that may occur in older children can include:
  • Brief, shrill, high-pitched cry;
  • Changes in personality, memory, or the ability to reason or think;
  • Changes in facial appearance and eye spacing;
  • Crossed eyes or uncontrolled eye movements;
  • Difficulty feeding;
  • Excessive sleepiness;
  • Headache;
  • Irritability, poor temper control;
  • Loss of bladder control (urinary incontinence);
  • Loss of coordination and trouble walking;
  • Muscle spasticity (spasm);
  • Slow growth (child 0–5 years);
  • Slow or restricted movement;
  • Vomiting

Rett syndrome is a childhood neurodevelopment disorder that affects females almost exclusively.  The child generally appears to grow and develop normally, before symptoms begin.  Loss of muscle tone is usually the first symptom. Other early symptoms may include a slowing of development, problems crawling or walking, and diminished eye contact. As the syndrome progresses, a child will lose purposeful use of her hands and the ability to speak. Compulsive hand movements such as wringing and washing follow the loss of functional use of the hands. The inability to perform motor functions is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech.

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