GELASTIC, DACRYSTIC and OTHER SEIZURES
For many individuals with HH, the first seizure to occur is the gelastic seizure. However, it is not uncommon for gelastic seizures to go undetected for years because of their unusual presentation.
Here are some examples of gelastic seizures:
Gelastic seizures are called the “laughing seizure” because they may look like bouts of uncontrolled laughter or giggling. However, the laughter-like sounds are often forced and combined with a facial contraction similar to a smile or smirk. In some children, the vocalization has a crying quality and the facial contraction resembles a grimace. These crying seizures are called dacrystic seizures. The gelastic seizures are not associated with any sense of well-being or delight for the individual, but instead can result in a feeling of fear or loss of control. Often the seizures go unrecognized until some other seizure type appears. Gelastics often occur as a child is falling off to sleep but can occur throughout the day and night. Infants and children will often be aroused out of sleep by a gelastic seizure, then settle down and go right back to sleep. Gelastics may present differently with each child; however, some commonalities are evident. There is often an aura, which may appear as a startle, or even a look of panic or fear. The eyes may seem vacant, dilate, or move up and to the left or right. Some children respond by seeking comfort from a parent or favorite toy for no apparent reason, others will run to a location where they feel safe. There often is a slight smile that seems somewhat forced and laughter or grunting that seems unusual or not appropriate at that time. In infants, there may be grunting and unusual squirming as well. Parents have reported gelastics occurring with their children that appear to be triggered by loud noises or fearful responses to sudden actions. Gelastic can also be triggered by excitement and anxiety. Many of the unusual behaviors associated with HH make diagnosis difficult. For many families, the initial incorrect diagnoses can include colic, acid reflux, Irritable Bowel Syndrome (IBS), or simply normal behavior for young children.
Gelastic seizures are rarely diagnosed at onset yet they begin in infancy in over one-third of documented patients. Gelastic seizures can occur with very high frequency and amazing regularity. Diagnosis is further complicated by the fact that electroencephalographic studies (EEGs) are often normal or only nonspecifically abnormal in children when only gelastic seizures are present. For many parents, when they hear a description of a gelastic seizure, they realize the activity was indeed there before, yet unrecognized as a seizure.
In many children, it is only with the development of the more devastating absence, complex partial, or generalized seizures that the diagnosis of HH is eventually made. The most dramatic and disabling seizures associated with HH are more generalized seizures – specifically grand mal seizures and drop attacks. Generalized seizures often appear after the onset of gelastic and complex partial seizures. When they do occur, they are often preceeded by an initial gelastic or complex partial seizure. It is usually when other seizure types begin, that behavior and cognitive issues become more obvious.
- Absence (or petit mal) seizures typically last 2 to 15 seconds and can include staring, fluttering eyes, and automatisms (picking, lip smacking, swallowing, fumbling). Typically, there is no confusion following these seizures and activities are resumed without disruption.
- Complex partial seizures typically last 1-2 minutes and may be companied by an aura and automatisms. The child may be unaware of their surrounds or experience amnesia during the seizure and be mildly or seriously confused and tired following an episode. However, it is not uncommon for complex partial seizures to be the first seizure type reported.
- Generalized (or grand mal) seizures typically last 1 to 2 minutes although they can last longer. They are typically accompanied by a cry or fall. During the seizure the child’s body may become rigid or jerk. Amnesia during the seizure is not uncommon and typically the child will be confused and very tired requiring sleep afterwards.
Individuals with seizures due to HH commonly display a wide range of cognitive impairments. Impairments may range from slight to severe. Most prevalent are problems with working memory, long-term retrieval, and processing speed, as well as visual and verbal learning and memory. The exact relationship between cognitive ability and the influence of seizure type, frequency, and onset is not well understood. There have been reported cases of patients with gelastic seizures and HH with normal cognitive functioning, yet these cases are less common. It is unclear at this point if size and attachment of the HH to the hypothalamus have a direct affect on cognitive functioning.
Compared to children, adults showing symptoms later in life appear to have less severe seizures, less severe learning and behavior difficulties, and better occupation and social connections.
EMOTIONAL AND BEHAVIORAL DIFFICULTIES
In current research papers on HH and behavior, it has been suggested that several diagnostic terms have been applied to the types of behavior demonstrated by individuals with HH. These include; attention deficit behavior, autism spectrum disorder, Asperger’s disorder, depression, paranoid disorder and obsessive-compulsive disorder. Some children have significant difficulties controlling angry outbursts, aggressive tendencies and many have been described as having oppositional-defiant disorder. These angry outbursts are often referred to as hypothalamic rages. Rages often can be mistaken for “temper tantrums” however, they usually happen quickly and without an identifiable cause or provocation. Children with rages have been reported to hit, kick, bite, cry, throw objects and bang on walls or doors. They may take out their aggression on parents, siblings or other children in a classroom setting. What makes the actions different is that the child typically does not make eye contact or the eyes seem vacant, they initially may not be able to hear any commands and they often require time and space to calm down. Once the behavior begins to subside, the child may feel tired, and often times they will feel distressed at being unable to control their behavior. They often apologize or feel very guilty for what has just occurred. Some parents have reported that their child has no memory of the rage once it is over.
Some individuals may experience endocrine or hormonal disturbances as a result of HH. Some individuals may experience problems with bed wetting, or symptoms of an extreme or lack of thirst. Many individuals may experience weight gain with or without a voracious appetite.
Precocious Puberty can occur in patients with HH. It is defined as unusually early onset of puberty (before age 8 for girls and age 9 for boys). It has been reported as early as infancy, in some cases. Precocious puberty can occur by itself, without seizures, or other neurological problems.
Pallister-Hall syndrome is a less common genetic disorder that affects the development of many parts of the body. Most people diagnosed with this condition have extra fingers and/or toes (polydactyly) and the skin between some fingers or toes may be fused (cutaneous syndactyly). Pallister-Hall can result in an HH that is often large. However, epilepsy occurs less frequently and is reported to be relatively mild compared to individuals with HH alone.
OTHER POTENTIAL DEFICITS OR DELAYS
Research data, as well as family reports, include a variety of other issues possibly associated with HH. Speech and language delays have been reported as well as delays in mobility to include deficits in balance, coordination and walking during early development. Families have also identified poor social skills and limited peer interaction as issues they deal with on a daily basis. Whether this is due to the HH, seizure activity, medications, or other neurological factors is not clear at this time. Further research in these areas is critical to the full understanding of the many complexities of HH.